Prevention Genetics Logo

Tyrosinemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5011
4 Genes

Common Hereditary Cancer Screening Panel

NGS with CNV (PGselect Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 15723
55 Genes

PGmax™ - Intellectual Disability, Epilepsy, and Autism (IDEA) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 4 weeks (7 - 16 days STAT)•Test 5045
2527 Genes

Tooth Agenesis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3021
9 Genes

Elevated Levels of C5-hydroxyacylcarnitine (C5-OH) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4999
7 Genes

Lynch Syndrome via MLPA of PMS2

Multiplex Ligation-Dependent Probe Amplification Assay
clock-circle2 - 3 weeks (6 - 11 days STAT)•Test 6062
1 Gene

Bernard-Soulier Syndrome via the GP9 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9227
1 Gene

PGmax™ - Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 4 weeks (7 - 16 days STAT)•Test 16006
1317 Genes

Angelman/Prader Willi Syndrome by MS-MLPA

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification
clock-circle2 - 3 weeks (6 - 11 days STAT)•Test 2056
2 Genes

Branchiootorenal Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10115
3 Genes

Maturity Onset Diabetes of the Young (MODY) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10305
18 Genes

Familial Partial Lipodystrophy (FPLD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12605
16 Genes

Long QT Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10325
19 Genes

Hereditary Hemochromatosis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10243
7 Genes

3-Methylcrotonyl-CoA Carboxylase Deficiency Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (6 - 12 days STAT)•Test 10069
2 Genes

Alport Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10147
4 Genes

Nevoid Basal Cell Carcinoma Syndrome Panel

NGS with CNV (PGselect platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16205
3 Genes

PGxome® - Rapid Whole Exome Test

Exome Platform with CNV
clock-circle7 - 16 days•Test 13001

Alzheimer's Disease, Familial, Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3409
3 Genes

Interstitial Lung Disease Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5211
24 Genes

PGmax™ - Comprehensive Congenital Heart Disease Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 4 weeks (7 - 16 days STAT)•Test 13008
509 Genes

Familial Hypercholesterolemia (FH) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10163
8 Genes

Autosomal Recessive Polycystic Kidney Disease (ARPKD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10463
3 Genes

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum (PXE) via the ABCC6 Gene

NGS with CNV (PGselect platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7857
1 Gene

Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 20 days STAT)•Test 223
1 Gene

Leber Hereditary Optic Neuropathy (LHON) - Targeted Testing for 3 Common Pathogenic Variants

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 20 days STAT)•Test 15667
3 Genes

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 2667
77 Genes

Alagille Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10071
2 Genes

Alzheimer's Disease, Familial, Plus APOE Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 15781
4 Genes

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)/Dysplasia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (6 - 12 days STAT)•Test 10261
18 Genes

Autoimmune Lymphoproliferative Syndrome/ALPS Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4921
16 Genes

Cardiac Arrhythmia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10423
68 Genes

Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10189
13 Genes

Autosomal Dominant Polycystic Kidney Disease (ADPKD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10149
10 Genes

Bardet-Biedl Syndrome (BBS) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (6 - 12 days STAT)•Test 10349
27 Genes

Familial Hemiplegic Migraine Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10161
8 Genes

Breast Cancer - High Risk Panel

NGS with CNV (PGselect Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5431
7 Genes

Brugada Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10329
17 Genes

Catecholaminergic Polymorphic Ventricular Tachycardia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10249
11 Genes

Cerebral Cavernous Malformations Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (6 - 12 days STAT)•Test 1943
3 Genes

Chronic Pancreatitis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10191
7 Genes

Coffin-Siris Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10221
12 Genes

Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10507
13 Genes

GJB2 Regulatory Element Deletion Testing (GJB6-D13S1830 and GJB6-D13S1854)

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 2997
1 Gene

Adrenocortical Carcinoma (ACC) Panel

NGS with CNV (PGselect platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16213
8 Genes

Combined Pituitary Hormone Deficiency (CPHD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5287
9 Genes

Adams-Oliver Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13027
8 Genes

Polycystic Liver Disease (PLD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10227
8 Genes

Inozyme ABCC6 Deficiency Genetic Test Program

Sponsored Test
NGS with CNV (PGselect Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7857
1 Gene

Comprehensive Vitreoretinopathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7941
21 Genes

Autism Spectrum Disorders (ASD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5061
170 Genes

PGmax™ - Inborn Errors of Immunity/Primary Immunodeficiency (PID) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 4 weeks (7 - 16 days STAT)•Test 13999
640 Genes

Charcot-Marie-Tooth (CMT) - Comprehensive Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10419
83 Genes

Hypertrophic Cardiomyopathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle 2 - 3 weeks (7 - 16 days STAT)•Test 1313
68 Genes

PGnome® - Health Screen Genome Test

Genome Platform with SV
clock-circle3 - 5 weeks•Test 9000

Severe Congenital Neutropenia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10257
42 Genes

Ambiguous Genitalia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 6903
85 Genes

PGmito - Mitochondrial Genome Sequencing

Long Range PCR and NGS
clock-circle3 - 4 weeks•Test 12980
37 Genes

Protein C Deficiency via the PROC Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8493
1 Gene

Movement Disorder Genetic Test Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 16004
938 Genes

Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Known Intragenic Gross Deletion

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 3738
1 Gene

Lynch Syndrome via the MSH2 Exons 1-7 Inversion

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 906
1 Gene

Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10359
38 Genes

Beta-Thalassemia and Hemoglobinopathy via the HBB Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7693
1 Gene

Cell Cultures

Cell cultures are performed by Allele Diagnostics
clock-circleN/A•Test 995

Targeted Testing for Sequence Variants

Sanger Sequencing
clock-circle2 - 3 weeks (6 - 14 days STAT)•Test 100

Ehlers-Danlos Syndromes (EDS) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10383
65 Genes

LHCGR-related Disorders via the LHCGR Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7729
1 Gene

Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 6927

MATERNAL CELL CONTAMINATION TESTING

Sponsored Test
Sanger Sequencing
clock-circle3 weeks (STAT 2 weeks)•Test 1150

Rett Syndrome via the MECP2 Gene

NGS with CNV (PGselect platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7271
1 Gene

Parkinson Disease via the LRRK2 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 11457
1 Gene

Manitoba Oculotrichoanal Syndrome (MOTA) via the FREM1 Exon 8-23 Deletion

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 3782
1 Gene

Galactosemia Type I (Classic and Variant Galactosemia) via the GALT Gene, 5.5 kb Common Deletion

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 2310
1 Gene

Hermansky-Pudlak Syndrome via the HPS3 Gene, Exon 1 Deletion

Targeted Deletion
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 759
1 Gene

Targeted Variants - Mitochondrial Genome Testing

Long Range PCR and NGS
clock-circle2 - 3 weeks•Test 14028

Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene, Exons 18-19 Deletion

Targeted Deletion
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 319
1 Gene

Targeted Variants - Deletion/Duplication Testing

Targeted PCR
clock-circle2 - 3 weeks•Test 1400

Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2B Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8967

Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 12655
13 Genes

No-Cost Genetic Testing Program for Thymidine Kinase 2 Deficiency

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 12031
55 Genes

X-Linked Adrenoleukodystrophy (X-ALD) Newborn Screening Reflex Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 12670
26 Genes

Early-Onset Bilateral Cataracts Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 13315
66 Genes

Ionis Familial Chylomicronemia Syndrome (FCS) Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13025
7 Genes

No-Cost Genetic Testing Program for Thymidine Kinase 2 Deficiency

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 12029
1 Gene

POMC/PCSK1/LEPR CDx Panel

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 13067
3 Genes

Amyotrophic Lateral Sclerosis (ALS) Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 15479
29 Genes

CardioNavigATTR Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 16207
36 Genes

NeuroNavigATTR Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 16209
66 Genes

Xeris Pharmaceuticals Uncovering Periodic Paralysis

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 16099
6 Genes

Alnylam Act® Primary Hyperoxaluria Type 1 Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 16035
45 Genes

NavigATTR Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 15139
1 Gene

Decode DEB Sponsored Testing Program

Sponsored Test
Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 15787
27 Genes

Amplify™ Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 15747
269 Genes

No-Cost Genetic Testing Program for Friedreich Ataxia (FA)

Sponsored Test
Repeat-Primed PCR and Fragment Length Assay
clock-circle1 - 2 weeks (6 - 9 days STAT)•Test 20060
1 Gene

Alnylam Act® Acute Hepatic Porphyria Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 16301
10 Genes

My Retina Tracker Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 16023
110 Genes

PassageBio FTD

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 5265
19 Genes

Alnylam Act® Primary Hyperoxaluria Type 1 Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 16029
3 Genes

Sponsored Genetic Testing Program for Cholestasis

Sponsored Test
NGS with CNV (PGselect Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 15215
77 Genes

Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 19 days STAT)•Test 125
1 Gene

PGxome® - Whole Exome Test

Exome Platform with CNV
clock-circle3 - 5 weeks•Test 5000

Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 19 days STAT)•Test 2086
1 Gene

Idiopathic Hypogonadotropic Hypogonadism (IHH) via the GNRHR Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9113
1 Gene

Homocystinuria via the CBS Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9369
1 Gene

Ectodermal Dysplasia via the EDA Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7631
1 Gene

Whole Genome Chromosomal Microarray (CMA-ISCA)

CMA
clock-circle3 - 5 weeks•Test 2000

Rapid Prenatal Whole Genome Chromosomal Microarray (CMA-ISCA) Test

CMA
clock-circle6 - 10 days•Test 3780

Neuroblastoma Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5057
15 Genes

Gitelman Syndrome via the SLC12A3 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4503
1 Gene

Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 11707
1 Gene

PTEN Hamartoma Tumor Syndrome via the PTEN Gene

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7513
1 Gene

Congenital Defects of Phagocytes Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16091
43 Genes

Congenital Adrenal Hyperplasia (CAH) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12053
7 Genes

Parkinson Disease Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10337
24 Genes

Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 11549
1 Gene

Susceptibility to Infection Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16093
64 Genes

Combined Immunodeficiencies with Syndromic Features Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16097
67 Genes

Comprehensive Endocrine Cancer Panel

NGS with CNV (PGselect platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16211
42 Genes

Complement Deficiencies Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16089
26 Genes

Immune Dysregulation Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16095
59 Genes

Antibody Deficiency Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16083
41 Genes

Cellular and Humoral Immunodeficiency Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16087
62 Genes

Fibrodysplasia Ossificans progressiva (FOP) via the ACVR1 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8293
1 Gene

X-Linked Hypoparathyroidism via the Interstitial Deletion-Insertion Involving Chromosomes 2p25.3 and Xq27.1, Near SOX3

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 4201
1 Gene

Autoinflammatory Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16085
57 Genes

Sarcoma Panel

NGS with CNV (PGselect Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7971
35 Genes

Hereditary Central Nervous System/Brain Cancer Panel

NGS with CNV (PGselect platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7969
26 Genes

PGmax™ - Skeletal Disorders and Joint Problems Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (6 - 12 days STAT)•Test 10631
694 Genes

PGxome® - Prenatal Whole Exome Test

Exome Platform with CNV
clock-circle7 - 16 days•Test 14010

Extract and Hold

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 14033

PGnome® - Whole Genome Test

Genome Platform with SV
clock-circle3 - 5 weeks•Test 7000

Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3005
17 Genes

Friedreich Ataxia (FRDA) via the FXN GAA Repeat Expansion

Repeat-Primed PCR & Fragment Length
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 20060
1 Gene

Elevated Levels of C14 and C14:1 Acylcarnitine via the ACADVL Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16043
1 Gene

Elevated Levels of C6, C8 and C10 Acylcarnitine via the ACADM Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16045
1 Gene

Hyperphenylalaninemia/Phenylalanine Hydroxylase Deficiency via the PAH Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9725
1 Gene

PGmax™ - Comprehensive Epilepsy and Seizure Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 4 weeks (7 - 16 days STAT)•Test 16005
1455 Genes

PGxome® - Health Screen Exome Test

Exome Platform with CNV
clock-circle3 - 5 weeks•Test 4000

No-charge Sponsored Testing Program for Rare Genetic Diseases of Obesity

Sponsored Test
NGS with CNV (PGselect Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 15187
87 Genes

Gene-Centric CNV Analysis via aCGH

CNV via aCGH
clock-circle2 - 4 weeks (9 - 21 days STAT)•Test 600

Rapid Whole Genome Chromosomal Microarray (CMA-ISCA) Test

CMA
clock-circle6 - 10 days•Test 12684

Comprehensive Brain Malformation Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12619
336 Genes

Elevated Levels of C0/(C16+C18) Acylcarnitine via the CPT1A Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16041
1 Gene

Low Levels of Free Carnitine (C0) via the SLC22A5 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 16039
1 Gene

Hypoglycemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12057
171 Genes

Glucose-6-Phosphate Dehydrogenase Deficiency via the G6PD Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7657
1 Gene

Severe Skeletal Conditions Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 15771
85 Genes

Ectodermal Dysplasia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10223
6 Genes

Dilated Cardiomyopathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 1339
68 Genes

Thrombocytopenia Panel - Expanded

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10393
33 Genes

Galactosemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5013
4 Genes

Amelogenesis and Dentinogenesis Imperfecta Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (6 - 12 days STAT)•Test 5207
34 Genes

Epilepsy and Seizure Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7347
410 Genes

Hemophilia B via the F9 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7641
1 Gene

Hereditary Hemorrhagic Telangiectasia (HHT) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10131
6 Genes

Glycogen Storage Disease (GSD) and Disorders of Glucose Metabolism Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10385
33 Genes

L1 Syndrome via the L1CAM Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7719
1 Gene

Spondylocostal Dysostosis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10213
6 Genes

Connective Tissue Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7947
101 Genes

Congenital Limb Malformation Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5065
99 Genes

Primary Aldosteronism Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3023
4 Genes

Familial Amyloidosis (hATTR) via the TTR Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8983
1 Gene

Oculocutaneous Albinism and Hypopigmentation Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10313
31 Genes

Differences of Sex Development (DSD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4509
158 Genes

Congenital Adrenal Hyperplasia (CAH) via the CYP21A2 Gene

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 20 days STAT)•Test 1419
1 Gene

Pulmonary Arterial Hypertension (PAH) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12625
11 Genes

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10397
39 Genes

Cornelia de Lange Syndrome and Related Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10399
42 Genes

TNXB-Related Disorders via the TNXB Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7533
1 Gene

Inherited Bone Marrow Failure Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7359
196 Genes

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10417
72 Genes

Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7577
1 Gene

PGnome® - Rapid Whole Genome Test

Genome Platform with SV
clock-circle8 - 16 days•Test 14000

Klippel-Feil Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12621
6 Genes

Glaucoma Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10335
24 Genes

No-Charge Genetic Testing and Counseling Program for Sensorineural Hearing Loss

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 to 4 weeks•Test 16033
274 Genes

Dentatorubral-Pallidoluysian Atrophy (DRPLA) via the ATN1 CAG Repeat Expansion

Repeat-Primed PCR & Fragment Length
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 5999
1 Gene

Top 99 Genetic Causes of Developmental Delay Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12675
99 Genes

Osteogenesis Imperfecta Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12047
30 Genes

Disorders of Copper Metabolism Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12673
6 Genes

Leukodystrophy and Leukoencephalopathy, Adult Onset Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12623
45 Genes

Cerebral Small Vessel Disease Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12637
10 Genes

Lipodystrophy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12603
29 Genes

Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10235
7 Genes

TNXB-Related Disorders via the TNXB Gene, Exons 32-44

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 20 days STAT)•Test 6088
1 Gene

Non-Immune Hydrops Fetalis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12661
149 Genes

Polydactyly and Syndactyly Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13099
230 Genes

Hereditary Hemolytic Anemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12041
34 Genes

Inherited Platelet Function Disorder Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10371
26 Genes

Amyotrophic Lateral Sclerosis (ALS)/Motor Neuron Disease via the SOD1 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8949
1 Gene

DetectHypopara™ Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 15739
26 Genes

Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Inversion

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 2050
1 Gene

Wilms Tumor Panel

NGS with CNV (PGselect platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10447
29 Genes

Nonsyndromic Congenital Heart Disease Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13097
44 Genes

Mitochondrial Disorders Panel (Nuclear Genes Only)

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5077
253 Genes

Lysosomal Storage Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13065
146 Genes

Spinocerebellar Ataxia Type 2 via the ATXN2 CAG Repeat Expansion

Repeat-Primed PCR & Fragment Length
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 12976
1 Gene

Marfan Syndrome and Related Aortopathies Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10363
40 Genes

Monogenic Diabetes Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4303
54 Genes

Organic Aciduria Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10391
41 Genes

Congenital Anomalies of the Gastrointestinal Tract Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13377
180 Genes

PGmaxTM - Comprehensive Inherited Kidney Diseases Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 4 weeks (7 - 16 days STAT)•Test 13990
330 Genes

VACTERL Association and Related Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13041
84 Genes

Congenital Diaphragmatic Hernia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13359
65 Genes

Hereditary Cystic Kidney Diseases Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10619
48 Genes

Noonan Spectrum Disorders/RASopathies Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10327
23 Genes

Anterior Segment Dysgenesis Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12003
278 Genes

Cholestasis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10319
70 Genes

Alnylam Act® hATTR Amyloidosis Sponsored Testing Program

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 15139
1 Gene

ENPP1 and ABCC6 Genetic Testing (SP‑051)

Sponsored Test
NGS with CNV (Exome or Genome Platform)
clock-circle3 weeks (STAT 2 weeks)•Test 7555
2 Genes

Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 2685
14 Genes

PGmax™ - Neonatal Crisis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle7 - 16 days•Test 7383

Familial Chylomicronemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13025
7 Genes

GNAS-Related Disorders via the GNAS Gene

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 15163
1 Gene

Machado-Joseph Disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) via the ATXN3 CAG Repeat Expansion

Repeat-Primed PCR & Fragment Length
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 13213
1 Gene

Congenital Diarrhea and Enteropathies Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12647
157 Genes

PGmaxTM - Primary Immunodeficiency and Malignancy Predisposition Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 4 weeks (7 - 16 days STAT)•Test 19998
712 Genes

Episodic Ataxia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13383
36 Genes

Oculopharyngeal Muscular Dystrophy via the PABPN1 (GCN) Repeat Expansion

Expansion Assay
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 6058
1 Gene

Comprehensive Monogenic Obesity Panel

NGS with CNV (PGselect Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 15185
52 Genes

Spinocerebellar Ataxia Type 17 via the TBP CAG/CAA Repeat Expansion

Repeat-Primed PCR & Fragment Length
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 6059
1 Gene

Lynch Syndrome/Constitutional Mismatch Repair Deficiency Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5463
5 Genes

Spinal Muscular Atrophy (SMA) via MLPA of SMN1 and SMN2

Multiplex Ligation-Dependent Probe Amplification Assay
clock-circle2 - 3 weeks (6 - 11 days STAT)•Test 6064
2 Genes

X-linked Spinal and Bulbar Muscular Atrophy (Kennedy Disease) via the AR Gene CAG Repeat Expansion

Repeat-Primed PCR & Fragment Length
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 7501
1 Gene

Hereditary Breast, Ovarian, Pancreatic, and Prostate Cancer Syndrome BRCA1/2 Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5451
2 Genes

Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 Gene

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7851
1 Gene

C9orf72 Gene Hexanucleotide Repeat Expansion

Repeat-Primed PCR & Fragment Length
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 151
1 Gene

Hereditary Breast and Gynecological Cancer Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5453
19 Genes

Diamond-Blackfan Anemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3015
23 Genes

Premature Ovarian Failure (POF) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5285
21 Genes

Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5243
38 Genes

Alpha Thalassemia Panel

Sanger Sequencing and MLPA
clock-circle3 - 4 weeks (12 - 19 days STAT)•Test 6090
2 Genes

Autosomal Dominant Polycystic Kidney Disease via MLPA of PKD1

Multiplex Ligation-Dependent Probe Amplification Assay
clock-circle2 - 3 weeks (6 - 11 days STAT)•Test 2058
1 Gene

Lymphedema Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10303
14 Genes

Porphyria Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10255
8 Genes

Alpha Thalassemia Deletion/Duplication and Constant Spring Panel

Multiplex Ligation-Dependent Probe Amplification Assay
clock-circle2 - 3 weeks (6 - 11 days STAT)•Test 6070
2 Genes

Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10453
1 Gene

Biotinidase Deficiency via the BTD Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9551
1 Gene

CADASIL1 via the NOTCH3 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 11525
1 Gene

X-linked Retinitis Pigmentosa (XLRP) via the RPGR Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 11013
1 Gene

Kallmann Syndrome (KS) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10279
10 Genes

Periodic Fever Syndromes Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10315
13 Genes

Craniofacial Malformations Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10343
19 Genes

Currarino Syndrome via the MNX1 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9829
1 Gene

Schwannomatosis Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10107
3 Genes

Neurofibromatosis Type 1 (NF1) and Legius Syndrome Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10099
2 Genes

Infantile Myofibromatosis Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10091
2 Genes

Birt-Hogg-Dube Syndrome via the FLCN Gene

NGS with CNV (PGselect Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8409
1 Gene

Hereditary Multiple Osteochondromas and Related Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10085
6 Genes

Ellis-van Creveld Syndrome (EVC) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10079
2 Genes

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10049
158 Genes

Comprehensive Pediatric Solid Tumor Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7973
137 Genes

Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10141
3 Genes

CADASIL and CARASIL Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10073
2 Genes

Comprehensive Neuropathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10427
145 Genes

Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10137
3 Genes

Xeroderma Pigmentosum (XP) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10259
9 Genes

von Willebrand Disease Types 1, 2, and 3 via the VWF Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 11801
1 Gene

Female Infertility Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4513
105 Genes

Parkinson Disease and Parkinsonism Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10623
70 Genes

Congenital Stationary Night Blindness Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4319
17 Genes

Corneal Dystrophies Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3029
27 Genes

Multiple Endocrine Neoplasia Type 2A (MEN2A), Type 2B (MEN2B), and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4673
1 Gene

IRF6-Related Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12081
2 Genes

Hypermethioninemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10133
4 Genes

Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10293
12 Genes

Multiple Epiphyseal Dysplasia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10247
10 Genes

Neurodegeneration with Brain Iron Accumulation Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 2695
16 Genes

Inherited Retinal Dystrophies Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4379
363 Genes

Stargardt Disease (STGD) and Macular Dystrophies Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4315
28 Genes

Kabuki Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10173
9 Genes

Peroxisomal Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10369
27 Genes

Leukodystrophy and Leukoencephalopathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5495
212 Genes

Bleeding Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10425
85 Genes

Comprehensive Hereditary Cancer Panel

NGS with CNV (PGselect Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5471
117 Genes

Cleft Lip/Cleft Palate Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10657
165 Genes

Comprehensive Neuromuscular Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10433
266 Genes

Gaucher Disease via the GBA1/GBA Gene

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 20 days STAT)•Test 479
1 Gene

Iron-Refractory Iron Deficiency Anemia (IRIDA) via the TMPRSS6 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8027
1 Gene

Congenital Methemoglobinemia via the CYB5R3 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9947
1 Gene

Protein S Deficiency via the PROS1 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9901
1 Gene

Ornithine Transcarbamylase Deficiency via the OTC Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9723
1 Gene

Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8461
1 Gene

Retinoblastoma via the RB1 Gene

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4501
1 Gene

Holt-Oram Syndrome (HOS) via the TBX5 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8475
1 Gene

SHOX-Related Disorders via the SHOX Gene

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 20 days STAT)•Test 626
1 Gene

Glycogen Storage Disease Type Ia via the G6PC1/G6PC Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9601
1 Gene

Cystinosis via the CTNS Gene, 57-kb Deletion

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 1636
1 Gene

Nemaline Myopathy via the NEB Exon 55 Deletion

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 356
1 Gene

Cerebral Cavernous Malformations via the CCM2 Gene, Exons 2-10 Deletion

Targeted PCR
clock-circle3 weeks (STAT 2 weeks)•Test 124
1 Gene

Von Hippel-Lindau Disease via VHL Gene

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7523
1 Gene

Maple Syrup Urine Disease Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3281
3 Genes

Multiple Endocrine Neoplasia Type 1 via the MEN1 Gene

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7503
1 Gene

Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A 1q21.1 Deletion

CMA
clock-circle3 - 5 weeks (6 - 10 days STAT)•Test 1718
1 Gene

Nemaline Myopathy via the NEB Gene, Exons 82-105 (Triplicate Repeat Region)

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 19 days STAT)•Test 2079
1 Gene

Inherited Ichthyoses and Related Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4929
68 Genes

Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 20 days STAT)•Test 1721
1 Gene

Congenital Hypothyroidism and Thyroid Hormone Resistance Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 1989
26 Genes

Krabbe Disease via the GALC Exons 11-17 (502T/Del)

Targeted PCR
clock-circle 2 - 3 weeks (8 - 10 days STAT)•Test 632
1 Gene

Beckwith-Wiedemann Syndrome via the CDKN1C Gene

NGS with CNV (PGselect Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10005
1 Gene

Tay-Sachs Disease via the French Canadian Deletion in the HEXA Gene

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 1450
1 Gene

Comprehensive Arrhythmia and Cardiomyopathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 2663
169 Genes

Trimethylaminuria via the FMO3 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8503
1 Gene

Hypomagnesemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3025
16 Genes

Retinitis Pigmentosa Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 2699
82 Genes

Niemann-Pick Disease Type C Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3425
2 Genes

Hypoparathyroidism Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 2653
28 Genes

Neuronal Ceroid Lipofuscinosis 3 (Batten Disease) via the CLN3 c.461-280_677+382 Deletion

Targeted PCR
clock-circle3 weeks (STAT 2 weeks)•Test 3739
1 Gene

Leber Congenital Amaurosis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4313
28 Genes

Propionic Acidemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3291
2 Genes

Cystic Fibrosis and CF-Related Disorders via the CFTR Gene

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3035
1 Gene

PMP22-Related Neuropathies via the PMP22 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9033
1 Gene

Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene, Exon 18 Deletion

Targeted PCR
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 234
1 Gene

Y Chromosome Deletion Analysis

Targeted Deletion
clock-circle2 - 3 weeks (8 - 10 days STAT)•Test 3740
1 Gene

Hemophilia A via the F8 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3077
1 Gene

Factor VII Deficiency via the F7 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4149
1 Gene

Huntington Disease via the HTT CAG Repeat Expansion

Repeat-Primed PCR & Fragment Length
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 2299
1 Gene

Primary Hyperoxaluria Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4531
3 Genes

Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 1772
1 Gene

Severe MTHFR Deficiency via the MTHFR Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7291
1 Gene

Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10635
2 Genes

Tuberous Sclerosis Complex (TSC) Deletion/Duplication Testing via MLPA

Multiplex Ligation-Dependent Probe Amplification Assay
clock-circle2 - 3 weeks (6 - 11 days STAT)•Test 2055
2 Genes

Tuberous Sclerosis Complex (TSC) Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10661
2 Genes

Generalized Arterial Calcification of Infancy (GACI) and Pseudoxanthoma Elasticum (PXE) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7545
2 Genes

Marfan Syndrome via the FBN1 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3057
1 Gene

Glycogen Storage Disease Type IV via the GBE1 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5413
1 Gene

Dystrophinopathy via the DMD Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 1773

Prostate Cancer Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5459
16 Genes

Fanconi Anemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10361
22 Genes

Melanoma Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5473
10 Genes

Loeys-Dietz Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 15737
6 Genes

Distal Arthrogryposis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10289
12 Genes

Hemophilia C via the F11 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7079
1 Gene

Hypospadias Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 6905
73 Genes

DICER1 Syndrome via the DICER1 Gene

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3041
1 Gene

Hyperphenylalaninemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3403
6 Genes

Shwachman-Diamond Syndrome via the SBDS Gene

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 19 days STAT)•Test 1289
1 Gene

Fabry Disease via the GLA Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7681
1 Gene

Wilson Disease / Hepatolenticular Degeneration via the ATP7B Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7871
1 Gene

Butyrylcholinesterase Deficiency via the BCHE Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7873
1 Gene

Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9533
1 Gene

Short Rib Skeletal Dysplasia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10347
19 Genes

Hypophosphatasia via the ALPL Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7573
1 Gene

X-Linked Adrenoleukodystrophy via the ABCD1 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7557
1 Gene

Urea Cycle Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10273
9 Genes

Wolfram Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10057
2 Genes

Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 9563
1 Gene

Optic Atrophy and Neuropathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10331
70 Genes

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10317
14 Genes

Congenital Central Hypoventilation Syndrome (CCHS) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10239
7 Genes

Waardenburg Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10055
8 Genes

Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10051
3 Genes

Craniosynostosis and Related Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10197
5 Genes

Idiopathic Basal Ganglia Calcification Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10171
4 Genes

Primary Periodic Paralysis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10139
3 Genes

Episodic Pain Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10123
4 Genes

Hereditary Colorectal Cancer and Polyposis Panel

NGS with CNV (PGselect Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5467
25 Genes

Hirschsprung Disease (Non-syndromic) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10225
6 Genes

Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10287
10 Genes

Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10377
29 Genes

Congenital Hyperinsulinism Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10265
9 Genes

Congenital Fibrinogen Deficiency Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10119
3 Genes

Nephrolithiasis and Nephrocalcinosis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10395
30 Genes

Pantothenate Kinase-Associated Neurodegeneration (PKAN, Hallervorden-Spatz Disease) via the PANK2 Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 8347
1 Gene

Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via the FOXL2 Gene

Sanger Sequencing
clock-circle3 - 4 weeks (12 - 20 days STAT)•Test 1673
1 Gene

Fragile X Syndrome via FMR1 CGG Repeat Expansion

Repeat-Primed PCR & MS-PCR
clock-circle1 - 2 weeks (6 - 10 days STAT)•Test 558
1 Gene

Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10229
6 Genes

Pseudohypoaldosteronism Type I Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10179
4 Genes

Familial Hypocalciuric Hypercalcemia (FHH) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10125
3 Genes

Cystinuria Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10075
2 Genes

Pediatric Cataracts Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10413
41 Genes

Malignant Hyperthermia Susceptibility Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10059
3 Genes

Distal Renal Tubular Acidosis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10159
4 Genes

Hermansky-Pudlak Syndrome (HPS) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10269
11 Genes

Epidermolysis Bullosa and Related Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3003
18 Genes

Stickler Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10271
12 Genes

Sterol Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13319
12 Genes

Hereditary Spastic Paraplegia Comprehensive Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 2673
106 Genes

Amyotrophic Lateral Sclerosis (ALS) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10155
29 Genes

PGmax™ - Comprehensive Movement Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 4 weeks (7 - 16 days STAT)•Test 16004
938 Genes

Deafness, Autosomal Recessive 16 (DFNB16) via the STRC Gene

Sanger Sequencing
clock-circle3 weeks (STAT 2 weeks)•Test 514
1 Gene

Deafness, Autosomal Recessive 16 (DFNB16) via MLPA of STRC

Multiplex Ligation-Dependent Probe Amplification Assay
clock-circle2 - 3 weeks (6 - 11 days STAT)•Test 12548
1 Gene

Hereditary Paraganglioma and Pheochromocytoma Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 1329
12 Genes

Dystonia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 3017
17 Genes

Congenital Myasthenic Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10321
32 Genes

Hyperammonemia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10407
63 Genes

Neonatal Respiratory Distress Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 13349
5 Genes

Hereditary Diffuse Leukoencephalopathy with Spheroids via the CSF1R Gene

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10665
1 Gene

Glycine Encephalopathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10129
11 Genes

Microphthalmia/Anophthalmia/Coloboma Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10333
55 Genes

Hydrocephalus Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 7939
38 Genes

Disorders of Fatty Acid Oxidation (FAOD) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10381
33 Genes

Pan Cardiomyopathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5263
117 Genes

Male Infertility Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 4511
137 Genes

Hereditary Ovarian Cancer Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5469
30 Genes

Pancreatic Cancer Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5461
18 Genes

Gastric Cancer Panel

Sequencing with CNV PG-Select
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10449
19 Genes

Early-Onset High Myopia Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 15487
137 Genes

Bone Fragility and Fracture Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 12679
72 Genes

Hereditary Hearing Loss and Deafness Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 5063
234 Genes

Usher Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10053
12 Genes

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 15423
160 Genes

PGmax™ - Comprehensive Ocular Disorders Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 4 weeks (7 - 16 days STAT)•Test 12005
644 Genes

Congenital Disorders of Glycosylation (CDG) Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10625
54 Genes

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10415
51 Genes

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10411
50 Genes

Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10405
48 Genes

Ciliopathy Panel

NGS with CNV (Exome or Genome Platform)
clock-circle2 - 3 weeks (7 - 16 days STAT)•Test 10431
133 Genes

Genetic Testing Program for Hypertrophic Cardiomyopathy (HCM)

Sponsored Test
Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 15797
56 Genes

No-Cost Genetic Testing Program for Friedreich Ataxia (FA)

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Targeted Variants - Mitochondrial Genome Testing

Long Range PCR and NGS
clock-circle3 weeks (STAT 2 weeks)•Test 14028

PGxome Prenatal - Patient Only

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 14010

Orphan Technologies

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 12677
22 Genes

Alnylam Act® Primary Hyperoxaluria Type 1 Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Alnylam Act® hATTR Amyloidosis Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Alnylam Act® Acute Hepatic Porphyria Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

NavigATTR Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Targeted Variants - Triple Exon Sequencing

Sanger Sequencing
clock-circle3 weeks (STAT 2 weeks)•Test 300

Cell Cultures

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 995

Glutaric Acidemia Type I via the GCDH Gene

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 9617

Limb Girdle Muscular Dystrophy (LGMD) Panel

fdsaf
clock-circle3 weeks (STAT 2 weeks)•Test 4324324

Limb Girdle Muscular Dystrophy (LGMD) Panel

fdasfa
clock-circle3 weeks (STAT 2 weeks)•Test

Targeted Variants - Prenatal

Sanger Sequencing
clock-circle3 weeks (STAT 2 weeks)•Test 990

PGxome® - Rapid Whole Exome Test

Exome Platform with CNV
clock-circle7 - 16 days•Test 13001

Targeted Variants

Sanger Sequencing
clock-circle3 weeks (STAT 2 weeks)•Test 100

NeuroNavigATTR Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

CardioNavigATTR Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Alnylam Act® Primary Hyperoxaluria Type 1 Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Genetic Testing Program for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Sponsored Test
Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 15795
17 Genes

No-charge Sponsored Testing Program for Rare Genetic Diseases of Obesity

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

No-Charge Genetic Testing and Counseling Program for Sensorineural Hearing Loss

Sponsored Test
clock-circle3 to 4 weeks•Test
1 Gene

Congenital Muscular Dystrophy (CMD) Panel

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test
28 Genes

Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

PGmito - Mitochondrial Genome Sequencing

Long Range PCR and NGS
clock-circle3 weeks (STAT 2 weeks)•Test 12980
37 Genes

Amplify™ Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

PGxome Diagnostic - Family Duo

Sequencing with CNV PGxome
clock-circle3 weeks (STAT 2 weeks)•Test 5200

Xeris Pharmaceuticals Uncovering Periodic Paralysis

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

No-Cost Genetic Testing Program for Thymidine Kinase 2 Deficiency

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Genetic Testing Program for Hypertrophic Cardiomyopathy (HCM)

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Genetic Testing Program for Activated PI3K Delta Syndrome (APDS)

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Genetic Testing Program for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

POMC/PCSK1/LEPR Companion Diagnostic (CDx) Panel

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Frontotemporal Dementia Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

X-linked Adrenoleukodystrophy (X-ALD) Newborn Screening Reflex Test Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) Test Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Early-Onset Bilateral Cataracts Genetic Test Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Cholestasis Genetic Test Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Movement Disorder Genetic Test Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Decode DEB Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Familial Chylomicronemia Syndrome (FCS) Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

Amyotrophic Lateral Sclerosis (ALS) Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

ABCC6 Deficiency Genetic Test Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

ENPP1 and ABCC6 Genetic Testing (SP‑051)

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

My Retina Tracker Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene

DetectHypopara™ Sponsored Testing Program

Sponsored Test
clock-circle3 weeks (STAT 2 weeks)•Test
1 Gene