Diagnostic Services Genetics
Comprehensive Genetic Test Menu
Diagnostic Services Genetics
Genetic Test Menu Have confidence in our specialized genetic testing experience For over 40 years, Quest Diagnostics has offered a comprehensive menu of advanced genetic tests. This testing is supported by our highly trained medical specialists and genetic counselors, who are experienced in clinical consultation. We lead the way in genetics through powerful diagnostic insights that take you to the forefront of testing, while meeting the needs of your busy practice.
Call our team of genetic counselors at 866.GENE.INFO (866.436.3463) for specific test information or a clinical consultation. Information is also available online in our Test Center at QuestDiagnostics.com or by calling 866.MY.QUEST (866.697.8378).
We offer over 700 genetic tests, more than any other laboratory. This provides us with experience in reviewing both everyday and rare and difficult cases.
microarray and next-generation sequencing. With the help of scientists at our leading-edge research facility, Nichols Institute, and our Lab of the Future in From prenatal to hereditary cancer Marlborough, MA, we continually expand screening to advanced neurological our portfolio of new and innovative diagnostic testing, our genetic tests use tests. Quest Diagnostics, together with the most advanced technologies available, its subsidiary Athena Diagnostics, can including high-resolution chromosomal provide all of your genetic testing needs.
We hope this comprehensive test menu is a helpful reference for you.
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Table of Contents
Part 1. Tests Offered by Quest Diagnostics Biochemical Genetics 3 Cytogenetics—General 4 Cytogenetics—Oncology-related 5 Molecular Genetics—Endocrinology 6 Molecular Genetics—Intellectual Disability/Autism 6 Molecular Genetics—Oncology 6 Molecular Genetics—Pharmacogenomics 7 Molecular Genetics—Prenatal/Reproductive 7 Molecular Genetics—Other 8 Other Genetic Tests 9
Part 2. Tests Offered by Athena Diagnostics Endocrinology 10 Nephrology 11 Neurology—Cerebrovascular Disorders 12 Neurology—Dementia 12 Neurology—Epilepsy 13 Neurology—Intellectual Disability/Autism 13 Neurology—Leukodystrophy 14 Neurology—Mitochondrial Disorders 14 Neurology—Motor Neuron Disorders 15 Neurology—Movement Disorders 15 Neurology—Neuromuscular Disorders 17 Neurology—Peripheral Neuropathy 18 Neurology—Other 19 Other Genetic Tests 19
Multiple test codes are available. Refer to the Quest Diagnostics Nichols Institute Directory of Services or the online Test Center (QuestDiagnostics.com) for test information.
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Genetic Test Menu Part 1. Tests Offered by Quest Diagnostics Test Code
Test Name
Test Code
Test Name
16020
First Trimester Screen, Hyperglycosylated hCG (h-hCG)1
BIOCHEMICAL GENETICS 8284N
Acetylcholinesterase and Fetal Hemoglobin
14531
Acylcarnitine, Plasma
17307X
Alpha-1-Antitrypsin (AAT) Quantitation and Mutation Analysis1
91615
Includes PAPP-A, h-hCG, NT, Down syndrome risk, and interpretation.
500
Glucose-6-Phosphate Dehydrogenase (G-6-PD), Quantitative
31789
Homocysteine (Cardiovascular)
36362
Homocysteine (Nutritional & Congenital)
Alpha-Fetoprotein and Acetylcholinesterase, Amniotic Fluid w/rfl HbF
16148
Integrated Screen, Part 11
232Z
Alpha-Fetoprotein, Amniotic Fluid with Reflex to AchE and Fetal Hgb
16150
19779X
Amino Acid Analysis for MSUD, LC/MS, Plasma
29881
Amino Acid Analysis, LC/MS, CSF
767X
Amino Acid Analysis, LC/MS, Plasma
36183X
Amino Acid Analysis, LC/MS, Urine
34694
Arylsulfatase A
70132X
Biotinidase
16537X
Biotinidase Activity with Reflex to Mutation Analysis1
70107X
Carnitine, LC/MS/MS
15948X
Carnitine, LC/MS/MS and Acylcarnitine
37356
Phenylalanine
335
Cholinesterase, Plasma
26336
Phenylalanine and Tyrosine
338
Cholinesterase, RBC and Plasma
726
Porphobilinogen, Quantitative, 24-Hour Urine
37965
Cholinesterase, Serum
6329
Porphobilinogen, Quantitative, Random Urine
39481
Cholinesterase, Serum, Plasma, RBC
5519
Porphyrins, Fractionated, Plasma
7961
Cholinesterase, Serum, with Dibucaine Inhibition
17198
14591Z
Chromosome Analysis and AFP with Reflex to AchE, Fetal Hgb, Amniotic Fluid
Porphyrins, Fractionated, Quantitative and Porphobilinogen, 24-Hour Urine
729
10947X
Cystine, 24-Hour Urine
Porphyrins, Fractionated, Quantitative, 24-Hour Urine
401X
Cystine, Quantitative, Random Urine
36592
Porphyrins, Fractionated, Quantitative, Random Urine
Genetic Test Menu
Acetylcholinesterase
219
Delta Aminolevulinic Acid, 24-Hour Urine
10290
Porphyrins, Total, Plasma
6301
Delta Aminolevulinic Acid, Random Urine
30294
Quad Screen
19701X
Disaccharidases
36208X
Fetal Hemoglobin, Amniotic Fluid
Test List
4929X
16145
First Trimester Screen, hCG1 Includes PAPP-A, hCG, NT, Down syndrome risk, and interpretation.
Includes PAPP-A and NT.
Integrated Screen, Part 21 Includes AFP; hCG; uE3; inhibin A; PAPP-A and NT from part 1; NTD, Down syndrome, and trisomy 18 risk; and interpretation.
5059
Maternal Serum AFP Includes AFP, neural tube defect risk, and interpretation.
91003
Methylmalonic Acid and Homocysteine (Nutritional & Congenital)
91002
Methylmalonic Acid, GC/MS/MS
90561
Organic Acids, Full Panel, Quantitative, Urine
90404
Organic Acids, Qualitative, Urine
15934
Penta Screen Includes AFP; hCG; uE3; inhibin A; h-hCG; NTD, Down syndrome, and trisomy 18 risk; and interpretation.
Includes AFP; hCG; uE3; inhibin A; NTD, Down syndrome, and trisomy 18 risk; and interpretation.
16131
Sequential Integrated Screen, Part 11 Includes PAPP-A; hCG; NT; Down syndrome, and trisomy 18 risk; and interpretation.
3
Part 1. Tests Offered by Quest Diagnostics
Test Code
Test Name
Test Code
Test Name
16133
Sequential Integrated Screen, Part 21
90927
Chromosomal Microarray, Prenatal, ClariSure® Oligo-SNP
14591Z
Chromosome Analysis and AFP with Reflex to AchE, Fetal Hgb, Amniotic Fluid
14596
Chromosome Analysis, Blood
Includes AFP; hCG; uE3; inhibin A; PAPP-A from part 1; NTD, Down syndrome, and trisomy 18 risk; and interpretation.
18980
Chromosome Analysis, Blood with Reflex to Postnatal ClariSure® Oligo-SNP Array3
Steroid Panel, 21-Hydroxylase Deficiency/Stress1 (Panel components may be ordered separately.)
14592X
Chromosome Analysis, Chorionic Villus Sample
10708X
Chromosome Analysis, Follow-up
14595X
Chromosome Analysis, High Resolution
18983
Chromosome Analysis, High Resolution w/rfl to Postnatal ClariSure® Oligo-SNP Array
14597X
Chromosome Analysis, Mosaicism
16843
Chromosome Analysis, Neonatal Blood
14599Z
Chromosome Analysis, Sister Chromatid Exchange
14593X
Chromosome Analysis, Tissue
91126
Chromosome Analysis, Tissue w/ Reflex to Microarray, ClariSure® Oligo-SNP
14590X
Chromosomes Analysis, Amniotic Fluid
14598Z
Chromosomes, DEB Assay for Fanconi Anemia
14608X
FISH, Angelman2
40047
FISH, Chromosome-Specific Probe (x1), Follow-up Study2
37343X
FISH, Chromosome-Specific Probe2
Includes AFP; hCG; uE3; inhibin A; PAPP-A and NT from part 1; NTD, Down syndrome, and trisomy 18 risk; and interpretation.
16165
Serum Integrated Screen, Part 11 Includes PAPP-A.
16167
90397
Serum Integrated Screen, Part 21
Includes 17-hydroxyprogesterone (17180), androstenedione (17182), and cortisol (11281).
90392
Steroid Panel, Comprehensive1 (Panel components may be ordered separately.) Includes androstenedione (17182), corticosterone (6547X), cortisol (11281), cortisone (37098X), deoxycorticosterone (90973), 11-deoxycortisol (30543), DHEA (19894), 18-hydroxycorticosterone, 17-hydroxypregnenolone (8352), 17-hydroxyprogesterone (17180), pregnenolone (31493X), progesterone (17183), and total testosterone (15983).
90398
Steroid Panel, Congenital Adrenal Hyperplasia (CAH)1 (Panel components may be ordered separately.) Includes androstenedione (17182), cortisol (11281), deoxycorticosterone (90973), 11-deoxycortisol (30543), DHEA (19894), 17-hydroxypregnenolone (8352), 17-hydroxyprogesterone (17180), progesterone (17183), and total testosterone (15983).
90426
Steroid Panel, PCOS/CAH Differentiation1 (Panel components may be ordered separately.) Includes 11-deoxycortisol (30543), 17-hydroxyprogesterone (17180), androstenedione (17182), DHEA (19894), and total and free testosterone (36170).
7292
Triple Screen Includes AFP; hCG; uE3; NTD, Down syndrome, and trisomy 18 risk; and interpretation.
959
Tryptophan, LC/MS
902
Tyrosine
90559
Very Long Chain Fatty Acids
CYTOGENETICS—GENERAL 10225X
Cell Culture for Possible Additional Prenatal Studies
91426
Chromosomal Microarray, Oncology, ClariSure® Oligo-SNP, FFPE Use this test code when a product of conception specimen is formalin fixed and paraffin embedded. Please call the lab before submitting specimen.
90929
Chromosomal Microarray, POC, ClariSure® Oligo-SNP
16478
Chromosomal Microarray, Postnatal, ClariSure Oligo-SNP
4
Choose one of the following: chromosome-specific (1-22, X and Y) centromere or chromosome-specific (1-22, X and Y) painting.
14614X
FISH, Cri du chat2
14610X
FISH, DiGeorge, Velocardiofacial (VCFS)2
19045X
FISH, Duplication 15q11q132
16672X
FISH, Duplication 22q11.22
14615X
FISH, Kallmann2
14612X
FISH, Miller-Dieker2
36053
FISH, Neonatal Screen2 Includes chromosomes 13, 18, 21, X, and Y.
14605X
FISH, Prader Willi2
14604X
FISH, Prenatal Screen Includes enumeration of chromosomes 13, 18, 21, X, and Y.
®
14611X
FISH, Smith-Magenis2
14606X
FISH, SRY/X Centromere2
Test Code
Test Name
Test Code
Test Name
14609X
FISH, Williams2
19041X
FISH, EGFR2
14613X
FISH, Wolf-Hirschhorn2
16112X
FISH, Ewing/PNET, EWSR1, 22q12 Rearrangements2
14607X
FISH, X-Linked Ichthyosis Steroid Sulfatase Deficiency2
90517
FISH, FGFR1, 8p11-122
17347X
FISH, Follicular Lymphoma, IGH/BCL2, t(14;18)2
19859
FISH, HER-2/neu with Reflex to IHC
14620X
FISH, HER-2/neu, Paraffin Block
16837
FISH, HES/Leukemia, 4q12 Rearrangement (FIP1L1-PDGFRA)2
91606
FISH, High-Grade Lymphoma Panel2
16593X
FISH, Lymphoid Disorder MYB, del 6q232
40056X
FISH, MALT Lymphoma, API2/MALT1, t(11;18)2
40053X
FISH, MALT Lymphoma, MALT1, 18q21 Rearrangement2
40057X
FISH, MALT Lymphoma, MALT1, rea18q21 with Reflex to API2/MALT1, t(11;18)2
CYTOGENETICS—ONCOLOGY-RELATED 10107X
Bladder Cancer, FISH
91027
Cervical Cancer, TERC, FISH2
90961
Chromosomal Microarray, Hematologic Malignancy, ClariSure® Oligo-SNP
91426
Chromosomal Microarray, Oncology, ClariSure® Oligo-SNP, FFPE
14601
Chromosome Analysis, CLL/LPD
14600X
Chromosome Analysis, Hematologic Malignancy
14602X
Chromosome Analysis, Lymph Node
14603X
Chromosome Analysis, Solid Tumor
17346X
FISH, Mantle Cell Lymphoma, IGH/CCND1, t(11;14)2
10969
ER/PR/DNA/HER2 w/Reflex to HER2 FISH, Paraffin Block
19799X
FISH, MDS/Myeloid Panel, -5/5q-, -7/7q-, +8, 20q2
10970
ER/PR/HER2 w/Reflex to HER2 FISH, Paraffin Block
91283
FISH, MET Amplification2
19856X
FISH, ALL, +4, +10, +172
36055X
FISH, MLL (11q23) Gene Rearrangement2
40050X
FISH, ALL, Extended Panel2
16077X
FISH, Multiple Myeloma, 13q-, 17p-, rea 14q322
Includes probes for the rearrangements 8q24(MYC), 9p21(p16;CDKN2A), 19p13.3(E2A:TCF3), t(12;21):TEL(ETV6)R, UNX1(AML1)fusion, 11q23(MLL), t(9;22)BCR/ABL1 fusion, 14q32(IGH), and numerical abnormalities of chromosomes 4, 10, and 17.
19619X
FISH, Multiple Myeloma, Chromosomes 5,9,152
16872
FISH, Multiple Myeloma, IGH/FGFR3, t(4;14)2
16965
FISH, Multiple Myeloma, IGH/MAF, t(14;16)2
FISH, ALL, Pre-B Panel
14621X
FISH, MYCN Amplification, Neuroblastoma2
19722X
FISH, Myeloma, 13q, 14q, 17p w/reflex to 5,9,152
90665
FISH, Myeloproliferative Neoplasms (Eosinophilia)2
16851
FISH, NHL, BCL6 3q27 Rearrangement2
16115X
FISH, Oligodendroglioma, 1p/19q2
90510
FISH, PDGFRB, 5q33.12
16076
FISH, Prostate Cancer2
90513
FISH, T-cell Receptor alpha/delta, 14q11.22
Includes selected markers for chromosomes 6, 11, 12, 13, and 17.
90512
FISH, TCL1, 14q32.12
17348X
FISH, B-Cell Malignancy, IGH, 14q32 Rearrangement2
14619X
FISH, X/Y, Post Opposite Sex Bone Marrow Transplant
17352X
FISH, Burkitt's/NHL/ALL, IGH/MYC, t(8;14)2
15547
HER-2, IHC with Reflex to FISH
10055X
FISH, Chromosome 20q Deletion
91028
12070X
FISH, CML/ALL, BCR/ABL Translocation 9;222
Lung Cancer (NSCLC), ALK 2p23 Rearrangement, FISH
40052X
2
Includes 11q (MLL), 4, 10, 17, t(9;22), and t(12;21).
90511
FISH, ALL, TCF3/PBX1, t(1;19)(q23.3;p13.3)2
14618X
FISH, ALL, TEL/AML1 Translocation 12;212
14706X
FISH, ALL/NHL, MYC-BA, 8q24 Rearrangement2
14617X
FISH, AML M3, PML/RARA, Translocation 15;172
10106X
FISH, AML, AML1/ETO Translocation 8;212
10635X
FISH, AML, CBFB/MYH11, Inversion 162
16864
FISH, B-Cell Chronic Lymphocytic Leukemia Panel2
2
5
Part 1. Tests Offered by Quest Diagnostics
Test Code
Test Name
Test Code
91836
Lung Cancer (NSCLC), ROS1 (6q22) Rearrangement, FISH
91216
Lung Cancer Mutation Panel (EGFR, KRAS, ALK)
MOLECULAR GENETICS—ONCOLOGY 2
Includes epidermal growth factor receptor (EGFR) mutation analysis, KRAS mutation analysis, and ALK 2p23 rearrangement (FISH).
91427
Melanoma, Chromosomal Microarray, ClariSure® Oligo-SNP
MOLECULAR GENETICS—ENDOCRINOLOGY 91680
CAH (21-Hydroxylase Deficiency) Common Mutations, Fetal Cells
14755X
CAH (21-Hydroxylase Deficiency) Common Mutations1
16072X
CAH (21-Hydroxylase Deficiency) Rare Mutations1
36587X
MEN2 and FMTC Mutations, Exons 10, 11, 13-161
16053X
Resistance to Thyroid Hormone (RTH) Mutation Analysis1
MOLECULAR GENETICS— INTELLECTUAL DISABILITY/AUTISM 16300
Fragile X DNA Analysis, Fetus
16612
HEXA Mutation Analysis, Gene Sequencing1
1
Includes sequencing of the entire coding region, the intron-exon splice sites, and the promoter region of the HEXA gene. Consider common mutation testing (Tay-Sachs Disease Mutation Analysis) prior to, or concurrently with, this test. Hexosaminidase testing should also be considered before or concurrently with this test.
90899
Mucolipidosis Type IV Mutation Analysis
16152X
Phenylketonuria (PKU) Mutation Analysis1
11369
Prader-Willi/Angelman Syndrome, DNA Methylation Analysis1
15088X
Rett Syndrome Mutation Analysis1
16662
Rett Syndrome Rearrangement (Deletion or Duplication)1
90903
Tay-Sachs Disease Mutation Analysis
1
Includes HEXA gene analysis for 1278insTATC, delta7.6kb, G269S, IVS9+1G>A, IVS12+1G>C, and R178H mutations and the R247W pseudodeficiency allele. Consider hexosaminidase testing before or concurrently with this test.
XSense®, Fragile X with Reflex and Chromosome Analysis, Blood1 Includes a reflex to Southern blot when PCR result is either not normal or gray zone.
16313
XSense®, Fragile X with Reflex1 Includes a reflex to Southern blot when PCR result is either not normal or gray zone.
6
16930
APC Gene Deletion or Duplication1
16934
APC Gene Sequencing1
91864
BRCAvantage™, Ashkenazi Jewish Screen
92140
BRCAvantage™, Ashkenazi Jewish Screen w/Reflex BRCAvantage™, Comprehensive
91863
BRCAvantage™, Comprehensive
91866
BRCAvantage™, Rearrangement
91865
BRCAvantage™, Single Site
91461
Lynch Syndrome Panel1 Includes mutation testing of MLH1, MSH2, MSH6, PMS2, and 3′-EPCAM deletion, using a blood specimen.
91332 91333
Lynch Syndrome Tumor Panel, IHC
14989X
Lynch Syndrome, Microsatellite Instability (MSI)1
91584
Lynch Syndrome, MLH1 Familial Deletion/ Duplication1
14984
Lynch Syndrome, MLH1 Familial Point Mutation1
91460
Lynch Syndrome, MLH1 Sequencing and Deletion/ Duplication1
70196X 16967
Lynch Syndrome, MLH1, IHC
91459
Lynch Syndrome, MSH2 Familial Deletion/ Duplication (Including EPCAM)1
14981
Lynch Syndrome, MSH2 Familial Point Mutation1
91471
Lynch Syndrome, MSH2 Sequencing and Deletion/ Duplication (Including EPCAM)1
70197X 16971
Lynch Syndrome, MSH2, IHC
91230
Lynch Syndrome, MSH6 Familial Deletion/ Duplication1
14983
Lynch Syndrome, MSH6 Familial Point Mutation1
91458
Lynch Syndrome, MSH6 Sequencing and Deletion/ Duplication1
16938 16252
Lynch Syndrome, MSH6, IHC
91463
Lynch Syndrome, PMS2 Familial Deletion/ Duplication1
91457
Lynch Syndrome, PMS2 Sequencing and Deletion/ Duplication1
1
Phenylalanine testing should be considered before or concurrently with this test.
16326
Test Name
Includes MLH1, MSH2, MSH6, PMS2, and microsatellite instability.
Test Code
Test Name
Test Code
Test Name
16997 16254
Lynch Syndrome, PMS2, IHC
14974
Beta-Globin Complete1
36587X
MEN2 and FMTC Mutations, Exons 10, 11, 13-16
16346
Beta-Globin Gene Dosage Analysis1
90872
Bloom Syndrome DNA Mutation Analysis1
90905
Canavan Disease Mutation Analysis1
15053X
CFTR Intron 8 Poly-T Analysis1
1
MOLECULAR GENETICS— PHARMACOGENOMICS 16924
AccuType® CP, Clopidogrel CYP2C19 Genotype1
92068
CFvantage™ Cystic Fibrosis Expanded Screen1
90251
AccuType® IL28B1
10917X
91416
AccuType Ribavirin
Cystic Fibrosis Complete Rare Mutation Analysis, Entire Gene Sequence1
16160X
AccuType® Warfarin1
15335X
Cystic Fibrosis D1152H Mutation Analysis1
16176X
Beta2-Adrenergic Receptor Mutations1
10226X
Cystic Fibrosis DNA Analysis, Fetus
16605
CYP2C19 Genotyping
16080X
Cystic Fibrosis Gene Deletion or Duplication2
11294X
Cytochrome P450 2C9 Genotype1
17726X
Cystic Fibrosis Mutation Screen with Reflex to CF Complete (Clinics Only)1
10490
Cytochrome P450 2D6 Genotype1
10913X
Cystic Fibrosis Rare Mutation Analysis, One Exon2
17634X
Cytochrome P450 2D6/2C19 Genotyping
10915X
Cystic Fibrosis Rare Mutation Analysis, Two Exon2
15538X
Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis1
10458
Cystic Fibrosis Screen
16859
PDGFRA Mutation Analysis1
90912
Familial Dysautonomia Mutation Analysis1
16897
PIK3CA Mutation Analysis1
16141X
Familial Mediterranean Fever Mutation Analysis1
16731
Tamoxifen P450 Genotyping
90897
Fanconi Anemia DNA Mutation Analysis1
37742Z
TPMT Genotype1
16300
Fragile X DNA Analysis, Fetus1
17813X
UGT1A1 Gene Polymorphism (TA Repeat)1
90907
Gaucher Disease, DNA Mutation Analysis1
16959
VEGF Polymorphism Analysis1
90915
Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)1
16612
HEXA Mutation Analysis, Gene Sequencing1
®
1
MOLECULAR GENETICS— PRENATAL/REPRODUCTIVE 16061X
Achondroplasia Mutation Analysis1
91711
Alpha-Globin Common Mutation Analysis, Fetus
11175
Alpha-Globin Common Mutation Analysis1
16124X
Alpha-Globin Gene Deletion or Duplication1
16116X
Alpha-Globin Gene Sequencing
90891
Ashkenazi Jewish Panel (11 Tests)1
90994
91709
Includes sequencing of the entire coding region, the intron-exon splice sites, and the promoter region of the HEXA gene. Common mutation testing (Tay-Sachs Disease Mutation Analysis) must be performed prior to, or concurrently with, this test. Hexosaminidase enzyme carrier screening should also be considered before or concurrently with this test.
90909
Maple Syrup Disease (MSUD) Mutation Analysis (Ashkenazi Jewish)1
90899
Mucolipidosis Type IV Mutation Analysis1
90893
Niemann-Pick Disease Mutation Analysis1
16152X
Phenylketonuria (PKU) Mutation Analysis1
Includes mutations associated with Bloom syndrome, Canavan disease, cystic fibrosis, Gaucher disease, glycogen storage disease, familial dysautonomia, Fanconi anemia, MSUD Jewish mutation, mucolipodosis type IV, Niemann-Pick disease, and Tay-Sachs disease.
90949
Prenatal Carrier Screen (CF, Fragile X, SMA)1
92777
QNatal™ Advanced Noninvasive Prenatal Screen
Ashkenazi Jewish Panel (4 Tests)1
26382X
Sickle Cell Anemia, DNA Probe Analysis, Fetus1
Includes mutations associated with Canavan disease, cystic fibrosis, familial dysautonomia, and Tay-Sachs disease.
18041
SMA Carrier Screen1
Beta-Globin Complete, Fetus
16869
SMA Diagnostic Test1
7
Part 1. Tests Offered by Quest Diagnostics
Test Code
Test Name
Test Code
Test Name
90903
Tay-Sachs Disease Mutation Analysis1
35079
Hereditary Hemochromatosis DNA Mutation Analysis1
16612
HEXA Mutation Analysis, Gene Sequencing1
Includes HEXA gene analysis for 1278insTATC, delta7.6kb, G269S, IVS9+1G>A, IVS12+1G>C, and R178H mutations and the R247W pseudodeficiency allele. Consider hexosaminidase enzyme carrier screening before or concurrently with this test.
16326
XSense , Fragile X with Reflex and Chromosome Analysis, Blood1 Includes a reflex to Southern blot when PCR result is either not normal or gray zone.
16313
Includes sequencing of the entire coding region, the intron-exon splice sites, and the promoter region of the HEXA gene. Consider common mutation testing (Tay-Sachs Disease Mutation Analysis) prior to, or concurrently with, this test. Hexosaminidase testing should also be considered before or concurrently with this test.
®
XSense®, Fragile X with Reflex1 Includes a reflex to Southern blot when PCR result is either not normal or gray zone.
MOLECULAR GENETICS—OTHER
10247X
Huntington Disease Mutation Analysis1
11244
Long Chain Acyl-CoA Dehydrogenase (LCHAD) Mutation Analysis1
16155X
Macular Degeneration Mutation Analysis1
90909
Maple Syrup Disease (MSUD) Mutation Analysis (Ashkenazi Jewish)1
16533X
19911A>G Mutation Analysis1
15340X
Alpha-1 Antitrypsin (AAT) Mutation Analysis1
91284
17307X
Alpha-1-Antitrypsin (AAT) Quantitation and Mutation Analysis1
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Gene Sequencing1
11176X
11175
Alpha-Globin Common Mutation Analysis1
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutation Analysis1
16124X
Alpha-Globin Gene Deletion or Duplication1
17911
Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis2
16116X
Alpha-Globin Gene Sequencing
90899
Mucolipidosis Type IV Mutation Analysis1
11210X
Angiotensin Converting Enzyme (ACE) Polymorphism (Insertion/Deletion)1
90893
Niemann-Pick Disease Mutation Analysis1
11118X
Angiotensin II Type 1 Receptor (AGTR1) Gene 1166A>C Polymorphism1
16152X
Phenylketonuria (PKU) Mutation Analysis1
11368
Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G1
16182X
Beta-fibrinogen -455G>A Mutation1
17909
14974
Beta-Globin Complete1
Prothrombin (Factor II) 20210G>A Mutation Analysis2
16346
Beta-Globin Gene Dosage Analysis1
90903
Tay-Sachs Disease Mutation Analysis1
16537X
Biotinidase Activity with Reflex to Mutation Analysis1
16526X
Biotinidase Deficiency Mutation Analysis1
15053X
CFTR Intron 8 Poly-T Analysis1
38956X
CKR-5 Gene, DNA Mutation Analysis
17904
Factor V (Leiden) Mutation Analysis w/Reflex to HR2 Mutation Analysis2
17900
Factor V (Leiden) Mutation Analysis2
10905
Factor V HR2 Allele DNA Mutation Analysis1
Includes HEXA gene analysis for 1278insTATC, delta7.6kb, G269S, IVS9+1G>A, IVS12+1G>C, and R178H mutations and the R247W pseudodeficiency allele. Consider hexosaminidase testing before or concurrently with this test.
17907X
Thrombophilia DNA Mutation Analysis2 Includes factor V (Leiden) and prothrombin (factor II) 20210G>A mutation analyses.
11126
Thrombophilia Mutation Analysis with Reflex to HR2 Mutation Analysis2 Includes factor V (Leiden) and prothrombin (factor II) 20210G>A mutation analyses with reflex to factor V HR2 mutation analysis.
11327
Thrombophilia Screen II, Inherited2 (Panel components may be ordered separately.) Includes antithrombin III activity (216), factor V (Leiden) mutation with reflex to factor V HR2 mutation (17904), protein C activity (1777), free protein S (10170), and prothrombin (factor II) 20210G>A mutation (17909).
Invader® assay/signal amplification.
17902X
Factor V HR2 Allele DNA Mutation Analysis2
16023X
Factor XI Mutation Analysis (Ashkenazi Jewish)1
17813X
UGT1A1 Gene Polymorphism (TA Repeat)1
16613X
Galactosemia Mutation Analysis1
19837X
von Willebrand Disease Mutation Analysis1
90828
Hemophilia A (Factor VIII) Inversions1
14679Z
Y Chromosome Microdeletion, DNA Analysis3
8
Test Code
Test Name
Test Code
Test Name
10262
Maternal Cell Contamination Study, STR Analysis3
OTHER GENETIC TESTS
825
Sickle Cell Screen
513X
Fetal Hemoglobin, Whole Blood
37679X
511X
Hemoglobin A2, Quantitative
Sickle Cell Screen with Reflex to Hemoglobinopathy Evaluation
31852X
Hemoglobin S, Quantitative
10556X
Twin Zygosity3
35489
Hemoglobinopathy Evaluation Includes hemoglobin A, A2, F, and any variants (eg, C, E, S), RBC count, hemoglobin, hematocrit, MCV, MCH, and RDW.
1
This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. Performance characteristics refer to the analytical performance of the test. 2
This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test. 3
This test is performed using a kit that has not been approved or cleared by the FDA. The analytical performance characteristics of this test have been determined by Quest Diagnostics Nichols Institute. This test should not be used for diagnosis without confirmation by other medically established means. Reflex tests are performed at an additional charge.
9
Genetic Test Menu Part 2. Tests Offered by Athena Diagnostics Test Code
Test Name
Test Code
Test Name
880
CYP21A2 (CAH) Evaluation Includes sequencing and analysis for the 30kb deletion.
ENDOCRINOLOGY 827
ABCC8 (CH) DNA Sequencing
883
Early Onset Obesity (LEPR) DNA Sequencing
876
ABCC8 (NDM) DNA Sequencing
640
Early Onset Obesity (MC4R) DNA Sequencing
815
ABCD1 (Adrenoleukodystrophy) DNA Sequencing
884
Early Onset Obesity Evaluation
6108
ABCD1 (Neurology) DNA Sequencing
462
Anosmic Kallmann/IHH Evaluation Includes sequencing of the FGF8, FGFR1, GNRHR, KAL1, KISS1R, PROK2, and PROKR2 genes.
Includes sequencing of the LEPR and MC4R genes.
881
Endocrine Hypertension (HSD11B2) Evaluation Includes sequencing of the HSD11B2 gene.
829
Familial Hypocalciuric Hypercalcemia (CASR) DNA Sequencing
856
FGF23 (Hypophosphatemic Rickets) DNA Sequencing
195
FGF8 DNA Sequencing
196
FGFR1 DNA Sequencing
893
APOB Mutation Analysis
852
AQP2 (Nephrogenic Diabetes Insipidus) DNA Sequencing
812
Autoimmune Polyglandular Syndrome (AIRE) Evaluation
887
Bardet-Biedl Syndrome Evaluation
823
GCK (CH) DNA Sequencing
Includes sequencing of the BBS1, BBS2, and BBS10 genes.
803
GCK (MODY2) DNA Sequencing and Deletion
842
GCK (NDM) DNA Sequencing
866
GH1 (GHD) DNA Sequencing
867
GHR DNA Sequencing
868
GHRHR (GHD) DNA Sequencing
822
GLUD1 (CH) DNA Sequencing
343
GNRH1 DNA Sequencing
279
GNRHR DNA Sequencing
848
Growth Hormone Deficiency Evaluation
871
BBS1 (BBS) DNA Sequencing
886
BBS10 (BBS) DNA Sequencing
872
BBS2 (BBS) DNA Sequencing
837
CEL (MODY8) Mutation Analysis
461
CHD7 DNA Sequencing
861
COL1A1 (OI) DNA Sequencing
862
COL1A2 (OI) DNA Sequencing
865
Combined Pituitary Hormone Deficiency Evaluation Includes sequencing of the POU1F1 and PROP1 genes.
679
Includes sequencing of the CHD7, FGF8, FGFR1, GNRHR, GNRH1, KAL1, KISS1R, PROK2, PROKR2, and TACR3 genes.
879
Congenital Adrenal Hyperplasia (CAH) Evaluation Includes sequencing and deletion analysis of CYP21A2 and sequencing of CYP11B1.
819
Includes sequencing of the GH1, GHRHR, and SHOX genes and detection of deletions in the SHOX gene.
Complete Kallmann/IHH Evaluation
Congenital Hyperinsulinism Evaluation
802
HNF4A (MODY1) DNA Sequencing and Deletion
775
HSD11B2 DNA Sequencing
878
HSD3B2 DNA Sequencing Test
895
Hypercholesterolemia Evaluation Includes sequencing of the APOB and LDLR genes.
Includes sequencing of the ABCC8, GCK, GLUD1, and KCNJ11 genes.
875
CYP11B1 (CAH) DNA Sequencing Test
857
Includes sequencing of the FGF23 and PHEX genes.
Includes sequencing and analysis for the 30kb deletion.
774 877
10
Hypophosphatemic Rickets Evaluation
853
INS (NDM) DNA Sequencing
Includes sequencing of the CYP11B1 gene.
834
IPF1 (MODY4) DNA Sequencing Test
CYP17A1 DNA Sequencing Test
841
IPF1 (NDM) DNA Sequencing
173
KAL1 DNA Sequencing
CYP11B1 DNA Sequencing Test
Test Code
Test Name
Test Code
Test Name
826
KCNJ11 (CH) DNA Sequencing
855
843
KCNJ11 (NDM) DNA Sequencing
PHEX (Hypophosphatemic Rickets) DNA Sequencing
364
KISS1R DNA Sequencing
864
POU1F1 (CPHD) DNA Sequencing
664
KRAS DNA Sequencing
816
Primary Adrenal Insufficiency Evaluation
658
KRAS/RAF1/SOS1 DNA Sequencing Evaluation
175
PROK2 DNA Sequencing
894
LDLR (Hypercholesterolemia) DNA Sequencing
180
PROKR2 DNA Sequencing
747
Liddle's Syndrome Evaluation
863
PROP1 (CPHD) DNA Sequencing
748
Pseudohypoaldosteronism Type 1 Evaluation
Includes sequencing of the SCNN1B and SCNN1G genes.
874
Lipoid CAH (StAR) Evaluation
Includes sequencing of the ABCD1, AIRE, and NR0B1 genes.
Includes sequencing of the SCNN1A, SCNN1B, and SCNN1G genes.
Includes sequencing of the StAR gene.
663
RAF1 DNA Sequencing
772
SCNN1A DNA Sequencing
LRP5 (OPPG) DNA Sequencing
745
SCNN1B DNA Sequencing
817
Male Precocious Puberty (LHCGR) DNA Sequencing
746
SCNN1G DNA Sequencing
818
MEN1 (MEN1) DNA Sequencing
888
SDHB DNA Sequencing
813
MEN2 (RET) DNA Sequencing
847
SHOX (GHD) DNA Sequencing and Deletion
885
Monogenic Diabetes (MODY) Evaluation
662
SOS1 DNA Sequencing
358
TACR3 DNA Sequencing
804
TCF1 (MODY3) DNA Sequencing and Deletion
Monogenic Hypertension Evaluation
805
TCF2 (MODY5) DNA Sequencing and Deletion
Includes sequencing of the CYP11B1, HSD11B2, SCNN1B, and SCNN1G genes.
858
Von Hippel-Lindau Syndrome (VHL) Evaluation
821
LRP5 (Idiopathic Osteoporosis [IOP]) DNA Sequencing
811
Includes detection of mutations and deletions in the GCK, HNF1A (TCF1), HNF4A, and HNF1B (TCF2) genes and mutations in the IPF1 gene.
749
882
Includes sequencing of the VHL gene.
Neonatal Diabetes Mellitus Evaluation Includes sequencing of the ABCC8, GCK, INS, IPF1, and KCNJ11 genes.
851
Nephrogenic Diabetes Insipidus (AVPR2) DNA Sequencing
854
Nephrogenic Diabetes Insipidus Evaluation
NEPHROLOGY 711
ACTN4 DNA Sequencing
765
BSND DNA Sequencing
Includes sequencing of the AQP2 and AVPR2 genes.
825
CASR DNA Sequencing
846
Noonan Syndrome (PTPN11) DNA Sequencing
764
CLCNKB DNA Sequencing
667
Normosmic Kallmann/IHH Evaluation
757
COL4A3 DNA Sequencing
Includes sequencing of the FGFR1, GNRHR, GNRH1, KISS1R, PROK2, PROKR2, and TACR3 genes.
758
COL4A4 DNA Sequencing
756
COL4A5 Deletion Analysis
755
COL4A5 Sequencing and Deletion Analysis
759
Complete Alport Syndrome Evaluation
814
NR0B1 (Adrenal Hypoplasia Congenita) DNA Sequencing
860
Osteogenesis Imperfecta Evaluation Includes sequencing of the COL1A1 and COL1A2 genes.
889
Pheochromocytoma Evaluation
Includes sequencing of the COL4A3, COL4A4, and COL4A5 genes and detection of deletions in COL4A5.
Includes sequencing of the RET, SDHB, and VHL genes.
11
Part 2. Tests Offered by Athena Diagnostics
Test Code
Test Name
761
Complete PKD Evaluation Includes sequencing of the PKD1 and PKD2 genes and detection of deletions in both genes.
Test Code
Test Name
NEUROLOGY—CEREBROVASCULAR DISORDERS
779
CYP11B1/2 DNA Chimeric Gene Fusion
685
CCM2 Deletion Analysis
722
Early Onset Nephrotic Syndrome Evaluation
684
CCM2 DNA Sequencing
686
CCM2 Evaluation
Includes sequencing of the LAMB2, NPHS1, NPHS2, PLCE1, and WT1 genes.
770
Hereditary Interstitial Kidney Disease Includes sequencing of the UMOD gene.
767
Hereditary Renal Tubular Disorders Evaluation Includes sequencing of the BSND, CLCNKB, KCNJ1, SLC12A1, and SLC12A3 genes.
Includes sequencing and deletion analysis of the CCM2 gene.
424
COL4A1 DNA Sequencing Test (CSVD)
421
Complete CADASIL Evaluation Includes sequencing of the NOTCH3 gene.
692
Complete Cerebral Cavernous Malformation (CCM) Evaluation
776
HNF1B DNA Sequencing and Deletion Evaluation
775
HSD11B2 DNA Sequencing
716
INF2 (FSGS) DNA Sequencing
442
HTRA1 DNA Sequencing Test (CARASIL)
717
Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation
682
KRIT1 (CCM1) Deletion Analysis
681
KRIT1 (CCM1) DNA Sequencing
683
KRIT1 (CCM1) Evaluation
Includes sequencing of the ACTN4, INF2, NPHS2, and TRPC6 genes.
763
KCNJ1 DNA Sequencing
714
LAMB2 DNA Sequencing
747
Liddle's Syndrome Evaluation Includes sequencing of the SCNN1B and SCNN1G genes.
750
NPH1 (FJN) Molecular Analysis
Includes sequencing and deletion analysis of the CCM2, KRIT1, and PDCD10 genes.
Includes sequencing and deletion analysis of the KRIT1 gene.
688
PDCD10 (CCM3) Deletion Analysis
687
PDCD10 (CCM3) DNA Sequencing
689
PDCD10 (CCM3) Evaluation Includes sequencing and deletion analysis of the PDCD10 gene.
Includes detection of homozygous deletions in the NPHP1 gene.
730
NPHS1 (Nephrin) Sequencing Analysis
710
NPHS2 (Podocin) Sequencing Analysis
760
PKD Deletion Analysis
NEUROLOGY—DEMENTIA 178
Includes APOE genotyping and concentrations of phosphorylated tau protein, total tau protein, and β-amyloid 42.
Includes detection of deletions in the PKD1 and PKD2 genes.
728
PKDx® Familial Mutation Evaluation Includes detection of the familial polycystic kidney disease mutation only.
725
PKDx® Sequencing Analysis Includes sequencing of the PKD1 and PKD2 genes.
718
PLCE1 DNA Sequencing
748
Pseudohypoaldosteronism Type 1 Evaluation
ADmark® Alzheimer's Evaluation
109
ADmark® APOE Genotype Analysis and Interpretation (Symptomatic)
168
ADmark® APP DNA Sequencing/Duplication
179
ADmark® Early Onset Alzheimer's Evaluation Includes sequencing of the APP, PS-1 (PSEN1), and PS-2 (PSEN2) genes and detection of duplications in the APP gene.
177
ADmark® Phospho-Tau/Total-Tau/Ab42 CSF Analysis and Interpretation (Symptomatic)
Includes sequencing of the SCNN1A, SCNN1B, and SCNN1G genes.
772
SCNN1A DNA Sequencing
167
ADmark® PS-1 DNA Sequencing
745
SCNN1B DNA Sequencing
169
ADmark® PS-2 DNA Sequencing
746
SCNN1G DNA Sequencing
209
C9orf72 (FTD) DNA
762
SLC12A1 DNA Sequencing
281
Frontotemporal Dementia Evaluation
766
SLC12A3 DNA Sequencing
712
TRPC6 DNA Sequencing
204
GRN DNA Sequencing
713
WT1 DNA Sequencing
205
MAPT DNA Sequencing
12
Includes sequencing of GRN and MAPT genes and detection of expansions in the C9orf72 gene.
Test Code
Test Name
Test Code
Test Name
5001
Epilepsy Advanced Sequencing Evaluation— Generalized, Absence, Focal, and Myoclonic Epilepsies
NEUROLOGY—EPILEPSY 549
Alexander Disease (GFAP) DNA Sequencing
141
ARX DNA Sequencing
065
ARX Duplication/Deletion (Epilepsy)
797
ARX Evaluation (Epilepsy) Includes sequencing and duplication/deletion analysis of the ARX gene.
067
CDKL5 Duplication/Deletion (Epilepsy)
799
CDKL5 Evaluation (Epilepsy)
Includes sequencing of 36 genes: ALDH7A1, CACNA1A, CASR, CHRNA2, CHRNA4, CHRNB2, CSTB, DEPDC5, EFHC1, EPM2A, GABRA1, GABRB3, GABRD, GABRG2, GRIN2A, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MBD5, ME2, NHLRC1, PCDH19, PRICKLE1, PRICKLE2, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN9A, SLC2A1, SLC4A10, and TBC1D24.
5008
Includes sequencing of 10 genes: ARX, CDKL5, FOXG1, GABRB3, GRIN2A, MEF2C, SCN2A, SLC25A22, SPTAN1, and STXBP1.
5005
Includes sequencing and analysis for duplications and deletions in the CDKL5 gene.
573
Complete SCN1A Evaluation Includes sequencing and deletion analysis of the SCN1A gene.
556
5003
Complete Tuberous Sclerosis Evaluation
5006
5007
Epilepsy Advanced Sequencing Evaluation— Epilepsy with Migraine
Epilepsy Advanced Sequencing Evaluation Includes sequencing of 141 genes: ALDH7A1, ARFGEF2, ARHGEF9, ARX, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATRX, CACNA1A, CASK, CASR, CCDC88C, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLCNKA, CLCNKB, CLN3, CLN5, CLN6, CLN8, CNTNAP2, VPS13B, COL18A1, COL4A1, CPT2, CSTB, CTSD, CUL4B, OFD1, DCX, DEPDC5, DNAJC5, EFHC1, EMX2, EPM2A, FGD1, FGFR3, FKRP, FKTN, FLNA, FOXG1, GABRA1, GABRB3, GABRD, GABRG2, GPC3, GPR56, GRIA3, GRIN2A, HSD17B10, KDM5C, KCNA1, KCNJ1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA1279, LAMA2, LARGE, LBR, LGI1, MBD5, ME2, MECP2, MEF2C, MFSD8, MLL2, NHLRC1, NIPBL, NOTCH3, NRXN1, OPHN1, PAFAH1B1, PAK3, PANK2, PAX6, PCDH19, PEX7, PHF6, SERPINI1, PIGV, PLA2G6, PLP1, PNKP, POLG, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRRT2, RAB39B, RAB3GAP1, RAI1, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SETBP1, SLC25A22, SLC2A1, SLC4A10, SLC9A6, SMC1A, SMC3, SMS, SNAP29, SPTAN1, SRPX2, STXBP1, SYNGAP1, SYP, TBC1D24, TBX1, TCF4, TPP1, TREX1, TSC1, TSC2, TUBA1A, TUBA8, TUBB2B, UBE3A, VPS13A, WDR62, and ZEB2.
5004
Epilepsy Advanced Sequencing Evaluation— Epilepsy in X-Linked Intellectual Disability Includes sequencing of 27 genes: ARHGEF9, ARX, ATP6AP2, ATRX, CASK, CDKL5, CUL4B, DCX, FGD1, GPC3, GRIA3, HSD17B10, KDM5C, MECP2, OFD1, OPHN1, PAK3, PCDH19, PHF6, PLP1, PQBP1, RAB39B, SLC9A6, SMC1A, SMS, SRPX2, and SYP.
5002
Epilepsy Advanced Sequencing Evaluation— Epileptic Encephalopathies Includes sequencing of 31 genes: ARHGEF9, ARX, CDKL5, CNTNAP2, FOXG1, GABRG2, GRIN2A, KCNT1, MECP2, NRXN1, PCDH19, PNKP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, and ZEB2.
Epilepsy Advanced Sequencing Evaluation— Syndromic Disorders Includes sequencing of 26 genes: ATP2A2, ATP6V0A2, CCDC88C, CLCNKA, CLCNKB, VPS13B, KCNA1, KCNJ1, KCNJ10, KIAA1279, LBR, LGI1, MLL2, NIPBL, PANK2, SERPINI1, PIGV, PLA2G6, RAI1, SETBP1, SMC3, SYNGAP1, TBX1, TSC1, TSC2, and VPS13A.
Includes sequencing of 7 genes: ATP1A2, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, and SLC2A1.
5000
Epilepsy Advanced Sequencing Evaluation— Neuronal Migration Disorders Includes sequencing of 29 genes: ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, FGFR3, FKRP, FKTN, FLNA, GPR56, LAMA2, LARGE, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB3GAP1, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, and WDR62.
CSTB (EPM1) Evaluation Includes sequencing and detection of expansions in the CSTB (EPM1) gene.
Epilepsy Advanced Sequencing Evaluation— Neuronal Ceroid Lipofuscinosis Includes sequencing of 10 genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, KCTD7, MFSD8, PPT1, and TPP1.
Includes sequencing and deletion analysis of the TSC1 and TSC2 genes.
674
Epilepsy Advanced Sequencing Evaluation— Infantile Spasms
410
EPM1 DNA Includes detection of dodecamer expansions in the CSTB gene.
518
MERRF mtDNA Evaluation Includes detection of a point mutation in each of the MT-TH, MTTK, MT-TL1, MT-TS1 genes in mitochondrial DNA.
443
POLG DNA Sequencing (Alpers' Syndrome)
537
SCN1A Deletion
523
TSC Familial Mutation Evaluation Includes detection of the familial tuberous sclerosis mutation only.
508
TSC1 Deletion Analysis
521
TSC1 DNA Sequencing
524
TSC2 DNA Deletion
522
TSC2 DNA Sequencing
NEUROLOGY—INTELLECTUAL DISABILITY/ AUTISM 790
AHI1 DNA Sequencing (Joubert Syndrome)
141
ARX DNA Sequencing
041
ARX Duplication/Deletion (Intellectual Disability)
13
Part 2. Tests Offered by Athena Diagnostics
Test Code
Test Name
773
ARX Evaluation (Intellectual Disability) Includes sequencing and duplication/deletion analysis of the ARX gene.
Test Code
Test Name
NEUROLOGY—LEUKODYSTROPHY
784
ASPM DNA Sequencing
815
ABCD1 (Adrenoleukodystrophy) DNA Sequencing
794
CC2D2A DNA Sequencing (Joubert Syndrome)
6108
ABCD1 (Neurology) DNA Sequencing
149
CDKL5 DNA Sequencing
6107
ARSA DNA Sequencing
049
CDKL5 Duplication/Deletion (Intellectual Disability)
6101
EIF2B1 DNA Sequencing
6102
EIF2B2 DNA Sequencing
CDKL5 Evaluation
6103
EIF2B3 DNA Sequencing
6104
EIF2B4 DNA Sequencing
785
Includes sequencing and duplication/deletion analysis of the CDKL5 gene.
791
CEP290 DNA Sequencing Test (Joubert Syndrome)
6105
EIF2B5 DNA Sequencing
729
Cohen Syndrome (COH1) DNA Sequencing
6109
GJC2 DNA Sequencing
153
Complete Rett Syndrome Evaluation
6106
Leukoencephalopathy with Vanishing White Matter
Includes sequencing and duplication/deletion analysis of the MECP2 gene.
Includes sequencing of the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes.
074
FOXG1 Deletion
6112
PLP1 DNA Sequencing
740
FOXG1 DNA Sequencing
6111
PLP1 Duplication
7410
FOXG1 Evaluation
6110
PLP1 Evaluation
Includes sequencing and deletion analysis of the FOXG1 gene.
795
Includes sequencing and duplication analysis of the PLP1 gene.
Joubert Syndrome Evaluation Includes sequencing of the AHI1, CC2D2A, CEP290, TMEM67, and TMEM216 genes and deletion analysis of the NPHP1 gene.
NEUROLOGY—MITOCHONDRIAL DISORDERS
786
MCPH1 DNA Sequencing
466
077
MEF2C Deletion
ANT1 (SLC25A4) DNA Sequencing (related to mtDNA depletion)
754
MEF2C DNA Sequencing
575
Common Mitochondrial Disorders Evaluation
7540
MEF2C Evaluation Includes sequencing and deletion analysis of the MEF2C gene.
793
NPHP1 Deletion (Joubert Syndrome)
788
Primary Microcephaly Evaluation
Includes restriction fragment polymorphism analysis of the MT-ATP6, MT-ND1, MT-ND5, MT-TH, MT-TK, MT-TL1, MT-TS1, and MT-TV genes and sequencing of the POLG gene.
487
DGUOK DNA Sequencing (related to mtDNA depletion)
517
MELAS mtDNA Evaluation
Includes sequencing of the ASPM, MCPH1, and WDR62 genes.
744
PTEN DNA Sequencing
142
Rett Syndrome (MECP2) DNA Sequencing
148
Rett Syndrome (MECP2) Duplication/Deletion Analysis
724
SHANK2 DNA Sequencing
742
SHANK3 DNA Sequencing
737
Smith-Lemli-Opitz Syndrome (DHCR7) DNA Sequencing
771
SYNGAP1 DNA Sequencing
789
TMEM216 DNA Sequencing (Joubert Syndrome)
792
TMEM67 DNA Sequencing (Joubert Syndrome)
787
WDR62 DNA Sequencing
14
Includes restriction fragment polymorphism analysis of the MTND1, MT-ND5, MT-TH, MT-TL1, and MT-TV genes.
579
Mitochondrial Encephalomyopathic Evaluation Includes sequencing of the POLG, RRM2B, and TK2 genes.
578
Mitochondrial Hepatoencephalopathic Evaluation Includes sequencing of the DGUOK, MPV17, POLG, TWINKLE (PEO1/C10orf2) genes.
577
Mitochondrial Neurogastrointestinal Encephalopathy Evaluation (MNGIE) Includes sequencing of the RRM2B and TYMP genes and restriction fragment polymorphism analysis of the MT-ND1, MTND5, MT-TH, MT-TL1, and MT-TV genes.
488
MPV17 DNA Sequencing (related to mtDNA depletion)
469
OPA1 DNA Sequencing (related to mtDNA depletion)
824
PDHA1 DNA Sequencing
Test Code
Test Name
Test Code
Test Name
474
POLG DNA Sequencing (related to all allelic disorders)
533
KIAA0196 (SPG8) DNA Sequencing
576
Progressive External Ophthalmoplegia Evaluation
613
KIF5A (SPG10) DNA Sequencing
532
NIPA1 (SPG6) DNA Sequencing
609
OPTN DNA Sequencing
632
Paraplegin (SPG7) DNA Sequencing
665
REEP1 (SPG31) Deletion Analysis
529
REEP1 (SPG31) DNA Sequencing
214
SMA Plus (Reflexive)
Includes sequencing of the ANT1 (SCL25A4), OPA1, POLG, TWINKLE (PEO1/C10orf2) genes and restriction fragment polymorphism analysis of the MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV genes.
486
RRM2B DNA Sequencing (related to mtDNA depletion)
489
TK2 DNA Sequencing (related to mtDNA depletion)
479
TWINKLE (PEO1/C10orf2) DNA Sequencing (related to mtDNA depletion)
484
TYMP DNA Sequencing Test (related to mtDNA depletion)
NEUROLOGY—MOTOR NEURON DISORDERS
Includes deletion analysis of the SMN1 gene. If an SMN1 deletion is detected on only 1 allele, sequencing of the SMN1 and SMN2 genes will be performed at an additional charge.
211
SMN DNA Sequencing Includes sequencing of the SMN1 and SMN2 genes.
534
Spastin (SPG4) Deletion
530
Spastin (SPG4) DNA Sequencing
614
Spastizin (ZFYVE26) DNA Sequencing (SPG15)
622
ANG DNA Sequencing
531
Atlastin (SPG3A) DNA Sequencing
633
Spatacsin (SPG11) DNA Sequencing
653
Autosomal Dominant Hereditary Spastic Paraplegia Evaluation
444
Spinal Muscular Atrophy Carrier Test
Includes detection of mutations in the SPG3A, SPG4, NIPA1 (SPG6), KIAA0196 (SPG8), KIF5A (SPG10), REEP1 (SPG31), and BSCL2 (SPG17) genes.
111D
Autosomal Recessive Hereditary Spastic Paraplegia Evaluation
212
Spinal Muscular Atrophy with Respiratory Distress (SMARD)—IGHMBP2 DNA Sequencing
654
Includes sequencing of the CYP7B1 (SPG5A), SPG7, SPG11, and SPG15 genes.
Includes deletion analysis of the SMN1 and SMN2 genes.
Spinal Muscular Atrophy Diagnostic Test Includes deletion analysis of the SMN1 and SMN2 genes.
621
TARDBP DNA Sequencing
631
BSCL2 DNA Sequencing
611
UBQLN2 DNA Sequencing
670
C9orf72 DNA
610
VCP DNA Sequencing
213
X-Linked Spinal Muscular Atrophy (XLSMA)—UBE1 DNA Sequencing
Includes analysis for repeat expansions in the C9orf72 gene.
643
Complete ALS Evaluation Includes sequencing of the ANG, FIG4, FUS, OPTN, SOD1, TARDBP, UBQLN2, and VCP genes and analysis for repeat expansions in the C9orf72 gene.
655
Complete Hereditary Spastic Paraplegia Evaluation Includes sequencing of the SPG3A, SPG4, CYP7B1 (SPG5A), NIPA1 (SPG6), SPG7, KIAA0196 (SPG8), KIF5A (SPG10), SPG11, SPG15, BSCL2 (SPG17), and SPG31 genes and analysis for deletions in the SPG4 and REEP1 (SPG31) genes.
215
Complete SMA Evaluation (Reflexive) Includes deletion analysis of the SMN1 and SMN2 genes. If the results are not diagnostic of SMA, sequencing of the SMN1 and SMN2 genes will be done at an additional charge. If still not diagnostic, IGHMB2 and UBE1 sequencing will be done at an additional charge.
612
CYP7B1 (SPG5A) DNA Sequencing
620
Familial Amyotrophic Lateral Sclerosis (SOD1) DNA
619
FUS DNA Sequencing
117
Kennedy's Disease (SBMA) DNA
NEUROLOGY—MOVEMENT DISORDERS 557
Alpha Synuclein (SNCA) DNA Sequencing
059
Alpha Synuclein (SNCA) Duplication/Deletion
493
Aprataxin DNA Sequencing
352
Ataxia-Telangiectasia (ATM) DNA Deletion Analysis
351
Ataxia-Telangiectasia (ATM) DNA Sequencing Analysis
697
Autosomal Dominant Ataxia Evaluation Includes detection of triplet or other repeats in the DRPLA, SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, and SCA17 genes. Also includes sequencing of the SCA5, SCA14, and SCA28 genes and sequencing of exon 2 and a 20 bp intron in the SCA13 gene.
Includes detection of CAG triplet repeats in the AR gene.
15
Part 2. Tests Offered by Athena Diagnostics
Test Code
Test Name
Test Code
Test Name
693
Autosomal Recessive Ataxia Evaluation
554
PARK7 (DJ1) DNA Sequencing
Includes sequencing in the APTX, FXN, SETX, SIL1, and TTPA genes. Also includes sequencing of the 3 PLOG1 gene exons that are associated with mitochondrial recessive ataxia syndrome.
058
PINK1 Deletion
542
PINK1 DNA Sequencing
639
Primary Dystonia Evaluation
402
Chorea Differential Evaluation Includes detection of CAG triplet repeats in the HTT (IT15) and DRPLA genes.
696
Complete Ataxia Evaluation Includes detection of triplet or other repeats in the DRPLA, FXN, SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, and SCA17 genes. Also includes sequencing of the APTX, FXN, SCA5, SCA14, SCA28, SETX, SIL1, and TTPA genes; sequencing of exon 2 and a 20 bp intron in the SCA13 gene; and sequencing of the 3 PLOG1 gene exons that are associated with mitochondrial recessive ataxia syndrome.
353
Complete Dopa-Responsive Dystonia (DYT5) Evaluation Includes sequencing of the GCH1 and TH genes and deletion analysis of the GCH1 gene.
588
Complete Parkinsonism Evaluation Includes sequencing and duplication/deletion analysis of the PARK2, PARK7 (DJ1), PINK1, and SNCA genes and sequencing of the LRRK2 gene.
401
666
PRRT2 (Dyskinesia/IC) DNA Sequencing
371
SCA1 DNA Includes detection of CAG triplet repeats in the SCA1 gene.
387
DRPLA DNA Test
285
Dystonia (DYT1) DNA Includes deletion analysis of the TOR1A (DYT1) gene.
119 348
Friedreich Ataxia DNA
284
593
SCA14 DNA Includes sequencing of the PRKCG (SCA14) gene.
388
SCA17 DNA Includes detection of CAG/CAA triplet repeats in the TBP (SCA17) gene.
672
SCA2 Expansion Analysis Includes detection of CAG triple repeats in the ATXN2 (SCA2) gene.
Includes detection of GAA triplet repeats in the FXN gene.
673
SCA28 (AFG3L2) DNA Sequencing
Friedreich's Ataxia DNA Sequencing
105
SCA3 (Machado-Joseph Disease) DNA
Friedreich's Ataxia Profile Includes detection of GAA triplet repeats and sequencing of the FXN gene.
638
GCH1 Deletion Analysis (DYT5)
637
GCH1 DNA Sequencing
116
Huntington's Disease DNA
Includes detection of CAG triplet repeats in the ATXN3 (SCA3) gene.
675
558
LRRK2 DNA Sequencing
543
LRRK2 DNA Includes sequencing of 3 codons in the LRRK2 gene: 1441 on exon 31 and 2019 and 2020 on exon 41.
MIRAS-Specific POLG1 DNA Includes sequencing of the 3 PLOG1 gene exons that are associated with mitochondrial recessive ataxia syndrome.
SCA5 DNA Sequencing Includes sequencing of the SPTBN2 (SCA5) gene.
373
SCA6 DNA Includes detection of CAG triplet repeats in the CACNA1A (SCA6) gene.
677
Includes detection of CAG triplet repeats in the HTT (IT15) gene.
383
SCA13 Select Exon DNA Includes sequencing of exon 2 and a 20 bp intron in the KCNC3 (SCA13) gene.
Includes sequencing of the FXN gene.
349
SCA12 (PPP2R2B) DNA Includes detection of CAG triplet repeats in the SCA12 (PPP2R2B) gene.
Includes detection of CAG triplet repeats in the DRPLA gene.
626
SCA10 DNA Includes detection of ATTCT pentanucleotide repeats in the SCA10 gene.
Complete Ataxia-Telangiectasia (ATM) Evaluation Includes sequencing and deletion analysis of the ATM gene.
629
Includes deletion analysis of the TOR1A (DYT1) gene and sequencing of the THAP1 gene.
SCA7 Expansion Analysis Includes detection of CAG triplet repeats in the ATXN7 (SCA7) gene.
384
SCA8 DNA Includes detection of CTA/CTG triplet repeats in the ATXN8OS (SCA8) gene.
594
SETX DNA Sequencing
627
SGCE Deletion Analysis (DYT11)
624
SGCE Sequencing (DYT11)
282
SIL1 (Marinesco-Sjogren Syndrome) DNA Sequencing
617
MR-1 (PNKD) DNA Sequencing
559
PARK2 (Parkin) DNA Sequencing
040
PARK2 (Parkin) Duplication/Deletion
634
TH DNA Sequencing (DYT5)
047
PARK7 (DJ1) Deletion
618
THAP1 (DYT6) DNA Sequencing
16
Test Code
Test Name
Test Code
Test Name
283
TTPA (Ataxia with Vitamin E Deficiency) DNA Sequencing
571
Dysferlin DNA Sequencing Includes sequencing of the DYSF gene.
100 589
ANO5 DNA Sequencing
623
BAG3 DNA Sequencing
641
CACNA1S DNA Sequencing
563
Calpain 3 DNA Sequencing Includes sequencing of the CAPN3 gene.
584
CAPN3 Deletion Analysis
585
CAPN3 Evaluation
Dystrophin Includes Western blot analysis to determine quality and quantity of dystrophin protein in muscle tissue.
NEUROLOGY—NEUROMUSCULAR DISORDERS 207
Early Onset Myotonia Evaluation Includes sequencing of the CLCN1 and SCN4A genes and detection of CTG triplet repeats in the DMPK gene.
567
EMD Sequencing
669
Emery-Dreifuss Muscular Dystrophy Evaluation Includes sequencing of the EMD, FHL1, and LMNA genes.
232
FCMD/FKTN DNA Sequencing
574
FHL1 DNA Sequencing
216
FKRP (CMD) DNA Sequencing
Includes sequencing of the CAV3 gene.
562
FKRP DNA Sequencing
128
CLCN1 DNA Sequencing
606
FLNC DNA Sequencing
201
COL6A1 DNA Sequencing
5905
FSHD Molecular Combing
202
COL6A2 DNA Sequencing
203
COL6A3 DNA Sequencing Test
293
Collagen VI-Related CMD Evaluation
Includes sequencing and deletion analysis of the CAPN3 gene.
566
Caveolin 3 DNA Sequencing
Includes detection of 4q35 deletions and haplotype associated with facioscalpulohumeral muscular dystrophy.
405
Includes 4q35 deletions associated with facioscalpulohumeral muscular dystrophy.
Includes sequencing of the COL6A1, COL6A2, and COL6A3 genes.
295
Complete Congenital Muscular Dystrophy (CMD) Evaluation Includes sequencing of the COL6A3, FKTN (FCMD), FKRP, LAMA2, POMGNT1, POMT1, and POMT2 genes.
182
181
Complete DMD Evaluation—Females
Includes sequencing of the CACNA1S and SCN4A genes.
217
LAMA2 (CMD) DNA Sequencing
565
Lamin A/C DNA Sequencing Includes sequencing of the LMNA gene.
LDB3 (ZASP) DNA Sequencing
Complete DMD Evaluation—Males
515
LHON mtDNA Evaluation
Complete Myotonia Evaluation
Complete Myotonic Dystrophy Evaluation Includes detection of CTG triplet repeats in the DMPK (DM1) and CCTG repeats in the CNBP (DM2, ZNF9) genes.
587
Includes detection of point mutations in the ND1 (3460G>A), ND4 (11778G>A), and ND6 (14484T>C) genes.
603
602
CRYAB DNA Sequencing
604
DES DNA Sequencing
108
DM1 DNA
506
Includes detection of CCTG repeats in the CNBP (DM2, ZNF9) genes.
Male Muscular Dystrophy Reflexive Profile Includes duplication/deletion analysis of the DMD gene. If negative, sequencing of the DMD gene is done at an additional charge. If still negative, sequencing of CAPN3, CAV3, DYSF, FKRP, LMNA, MYOT, SGCA, SGCB, SGCD, and SGCG genes is performed at an additional charge.
517
MELAS mtDNA Evaluation Includes restriction fragment polymorphism analysis of the MTND1, MT-ND5, MT-TH, MT-TL1, and MT-TV genes.
518
MERRF mtDNA Evaluation Includes detection of a point mutation in each of the MT-TH, MTTK, MT-TL1, MT-TS1 genes in mitochondrial DNA.
Includes detection of CTG triplet repeats in the DMPK (DM1) gene.
DM2 DNA
Limb Girdle Muscular Dystrophy Evaluation Includes sequencing of the CAPN3, CAV3, DYSF, FKRP, LMNA, MYOT, SGCA, SGCB, SGCD and SGCG genes. Also includes deletion analysis in the CAPN3, SGCA, and SGCG genes.
Complete Sarcoglycans Evaluation Includes sequencing of the SGCA, SGCB, SGCD, and SGCG genes and deletion analysis of the SGCA and SGCG genes.
110
Hypokalemic Periodic Paralysis (HOKPP) Evaluation
607
Includes sequencing of the CLCN1 and SCN4A genes and detection of CTG triplet repeats in the DMPK gene and CCTG repeats in the CNBP gene.
126
649
Includes sequencing and duplication/deletion analysis of the DMD gene. Report provided is specific for females.
Includes sequencing and duplication/deletion analysis of the DMD gene. Report provided is specific for males.
147
FSHD Southern Blot
636
Myofibrillar Myopathy (MFM) Evaluation Includes sequencing of the BAG3, CRYAB, DES, FLNC, LDB3 (ZASP), and MYOT genes.
17
Part 2. Tests Offered by Athena Diagnostics
Test Code
Test Name
Test Code
Test Name
616
MYOT (MFM) DNA Sequencing
4008
CMT Advanced Evaluation—Axonal
581
MYOT DNA Sequencing
516
NARP mtDNA Evaluation Includes detection of point mutations in the MT-ATP6 gene in mitochondrial DNA.
269
4001
4007
Optic Atrophy Evaluation (OPA1) Includes sequencing of the OPA1 gene.
103
101
Partial DMD—Del/Dup Only—Males Includes duplication/deletion analysis of the DMD gene. Report provided is specific for males.
183
4005
Partial DMD—Sequencing Only
CMT Advanced Evaluation—Dominant Includes sequencing of the DNM2, EGR2, GARS, HSPB1, HSPB8, LITAF, MFN2, MPZ, NFL, PMP22, RAB7, TRPV4, and YARS genes, and duplicaton/deletion analysis of the PMP22 gene.
Partial DMD—Del/Dup Only—Females Includes duplication/deletion analysis of the DMD gene. Report provided is specific for females.
CMT Advanced Evaluation—Demyelinating Includes sequencing of the DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1 (CX32), LITAF, MTMR2, MPZ, NDRG1, PMP22, PRX, SBF2, SH3TC2, and YARS genes; deletion analysis of the GJB1 (CX32); and duplicaton/deletion analysis of the PMP22 gene.
OPMD DNA Includes detection of GCG triplet repeats in the PABP2 gene.
490
CMT Advanced Evaluation—Comprehensive Includes sequencing of the DNM2, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1 (CX32), HSPB1, HSPB8, LITAF, LMNA, MFN2, MTMR2, MPZ, NDRG1, NFL, PMP22, PRX, RAB7, SBF2, SH3TC2, TRPV4, and YARS genes; deletion analysis of the GJB1 (CX32); and duplicaton/ deletion analysis of the PMP22 gene.
Non-Syndromic Congenital Muscular Dystrophy (CMD) Evaluation Includes sequencing of COL6A1, COL6A2, COL6A3, FKRP, and LAMA2 genes.
300
Includes sequencing of the DNM2, GARS, GDAP1, GJB1 (CX32), HSPB1, HSPB8, LMNA, MFN2, MPZ, NFL, RAB7, TRPV4, and YARS genes and deletion analysis of the GJB1 (CX32) and GJB1 gene.
4003
CMT Advanced Evaluation—Dominant, Axonal Includes sequencing of the DNM2, GARS, HSPB1, HSPB8, LMNA, MFN2, MPZ, NFL, RAB7, TRPV4, and YARS genes.
4002
Includes sequencing of the DMD gene.
CMT Advanced Evaluation—Dominant, Demyelinating Includes sequencing of the DNM2, EGR2, LITAF, MPZ, PMP22, and YARS genes and duplicaton/deletion analysis of the PMP22 gene.
220
POMGNT1 (CMD) DNA Sequencing
218
POMT1 (CMD) DNA Sequencing
219
POMT2 (CMD) DNA Sequencing
642
SCN4A (HOKPP) DNA Sequencing
146
SCN4A DNA Sequencing
582
SGCA Deletion
564
SGCA DNA Sequencing
568
SGCA, B, D, G DNA Sequencing
051
SGCB DNA Sequencing
052
SGCD DNA Sequencing
583
SGCG Deletion
053
SGCG DNA Sequencing
237
Syndromic Congenital Muscular Dystrophy (CMD) Evaluation
253
DNM2 DNA Sequencing
Includes sequencing of the FKTN (FCMD), POMGNT1, POMT1, POMT2 genes.
691
Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation
NEUROLOGY—PERIPHERAL NEUROPATHY 235
Amyloidosis Evaluation (TTR) Includes sequencing of the TTR gene.
660
CMT Advanced Evaluation—Recessive Includes sequencing of the FGD4, FIG4, GDAP1, LMNA, MTMR2, NDRG1, PRX, SBF2, and SH3TC2 genes.
4004
CMT Advanced Evaluation—Recessive, Demyelinating Includes sequencing of the FGD4, FIG4, GDAP1, MTMR2, NDRG1, PRX, SBF2, and SH3TC2 genes.
286
Complete Dejerine-Sottas Neuropathy Evaluation Includes EGR2, MPZ, PMP22, and PRX gene sequencing.
243
Complete HNPP Evaluation Includes sequencing and duplication/deletion analysis of the PMP22 gene.
245
Congenital Hypomyelination Evaluation Includes sequencing of the EGR2 and MPZ genes.
143
Connexin32 Evaluation Includes sequencing and duplication/deletion analysis of the GJB1 gene.
Includes sequencing of the NTRK1 and WNK1 genes.
248
EGR2 DNA Sequencing
296
Entrapment Neuropathy Evaluation Includes sequencing of the PMP22 and TTR genes and duplication/ deletion analysis of the PMP22 gene.
ATL1 (HSAN) DNA Sequencing Test Includes sequencing of the ALT1 gene, targeting mutations associated with hereditary sensory and autonomic neuropathy type 1D.
18
4006
208
FGD4 DNA Sequencing
225
FIG4 DNA Sequencing
Test Code
Test Name
228
GARS (CMT2D) DNA Sequencing
221
GDAP1 DNA Sequencing
NEUROLOGY—OTHER
229
HSPB1 (CMT2F) DNA Sequencing
319
463
HSPB8 DNA Sequencing
698
Late Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation Includes sequencing of the SPTLC1 and SPTLC2 genes.
222
LITAF/SIMPLE DNA Sequencing
226
LMNA (CMT2B1) DNA Sequencing
518
MERRF mtDNA Evaluation Includes detection of a point mutation in each of the MT-TH, MT-TK, MT-TL1, MT-TS1 genes in mitochondrial DNA.
223
MFN2 DNA Sequencing
354
MTMR2 DNA Sequencing
134
Myelin Protein Zero (MPZ) DNA Sequencing
394
NDRG1 DNA Sequencing
249
Neurofilament Light (NFL) DNA Sequencing
659
NTRK1 DNA Sequencing
239
Periaxin DNA Sequencing Test
Test Code
PMP22 DNA Sequencing
131
PMP22 Duplication/Deletion DNA
227
RAB7 (CMT2B) DNA Sequencing
164
SBF2 DNA Sequencing
719
SEPT9 DNA Sequencing
224
SH3TC2 DNA Sequencing
551
SPTLC1 DNA Sequencing
552
SPTLC2 DNA Sequencing
144
TRPV4 DNA Sequencing
553
WNK1 DNA Sequencing
468
YARS DNA Sequencing
Connexin 30 DNA Includes deletion analysis of the GJB6 gene.
329
Connexin Related Deafness Evaluation Includes sequencing of the GJB2 gene and deletion analysis of the GJB6 gene.
321
Cx26 DNA Sequencing Includes sequencing of the GJB2 gene.
185
Familial DNA Sequence Evaluation Includes analysis for a familial mutation only.
187
Familial Hemiplegic Migraine Type I (CACNA1A) DNA Includes sequencing of the CACNA1A gene.
188
Familial Hemiplegic Migraine Type II (ATP1A2) DNA Includes sequencing of the ATP1A2 gene.
189
Familial Hemiplegic Migraine Type III (SCN1A) DNA (Target Exon Analysis) Includes sequencing of the SCN1A gene.
190
Hemiplegic Migraine Evaluation Includes sequencing of the ATP1A2, CACNA1A, and SCN1A genes.
518
MERRF mtDNA Evaluation Includes detection of a point mutation in each of the MT-TH, MTTK, MT-TL1, MT-TS1 genes in mitochondrial DNA.
Includes sequencing of the PRX gene.
247
Test Name
648
Neurofibromatosis Type 1 (NF1) Evaluation Includes sequencing and deletion analysis of the NF1 gene.
647
Neurofibromatosis Type 1 Deletion Includes deletion analysis of the NF1 gene.
646
Neurofibromatosis Type 1 DNA Sequencing Includes sequencing of the NF1 gene.
644
Neurofibromatosis Type 2 (NF2) Duplication/ Deletion
645
Neurofibromatosis Type 2 (NF2) Evaluation Includes sequencing and duplication/deletion analysis of the NF2 gene.
635
Neurofibromatosis Type 2 DNA Sequencing Includes sequencing of the NF2 gene.
OTHER GENETIC TESTS 166
APOE Genotype Analysis Includes analysis of the APOE genotype (e2, e3, and e4 alleles) for non-Alzheimer disease indications.
All tests were developed and their performance characteristics have been determined by Athena Diagnostics. Performance characteristics refer to the analytical performance of the test.
19
NOTES:
20
21
Diagnostic Services Genetics
QuestDiagnostics.com
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