Test Descriptions Found:

871

Neurologic Disorders

CMA

Aceruloplasminemia

Test Available Sequencing Del/Dup Other
Aceruloplasminemia via the CP Gene$1220.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection$2390.00

Acute Intermittent Porphyria

Test Available Sequencing Del/Dup Other
Acute Intermittent Porphyria via the HMBS Gene$870.00$690.00
Acute/Neurovisceral Porphyria Sequencing Panel$690.00$770.00
Porphyria Sequencing Panel$1390.00$840.00

Adenylosuccinate Lyase Deficiency

Test Available Sequencing Del/Dup Other
Adenylosuccinase Deficiency via the ADSL Gene$690.00$690.00$840.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00

Adrenoleukodystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
X-Linked Adrenoleukodystrophy via the ABCD1 Gene$780.00$690.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Aicardi-Goutieres Syndrome

Test Available Sequencing Del/Dup Other
Aicardi-Goutiéres Syndrome 5 via the SAMHD1 Gene$990.00$690.00$1100.00
Aicardi-Goutières Syndrome 3 via the RNASEH2C Gene$540.00$690.00
Aicardi-Goutières Syndrome 4 via the RNASEH2A Gene$990.00$690.00
Aicardi-Goutières Syndrome 2 via the RNASEH2B Gene$690.00$690.00$910.00
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene$690.00$1190.00
Aicardi-Goutières Syndrome Sequencing Panel$1450.00$840.00

Alpers syndrome

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00$1280.00

Alzheimer's Disease

Test Available Sequencing Del/Dup Other
Alzheimer Disease, Familial, Sequencing Panel$990.00$770.00
Alzheimer's Disease, Familial via the PSEN1 Gene$690.00$690.00$780.00
Alzheimer's Disease, Familial via the PSEN2 Gene$690.00$690.00$750.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel$1540.00$1290.00
Dementia Sequencing Panel$1440.00$840.00
Frontotemporal Dementia via the MAPT Gene$990.00$1130.00
Parkinson Disease Sequencing Panel$1590.00$840.00

Aminoacylase 1 Deficiency

Test Available Sequencing Del/Dup Other
Aminoacylase-1 Deficiency via the ACY1 Gene$690.00$690.00$810.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00

Amish Infantile Epilepsy Syndrome

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
GM3 Synthase Deficiency via The ST3GAL5 Gene$680.00$690.00

Amyloidosis

Test Available Sequencing Del/Dup Other
Familial Amyloidosis (Finnish Type) via the GSN Gene$1020.00$690.00

Amyotrophic Lateral Sclerosis

Test Available Sequencing Del/Dup Other
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00

Amyotrophic Lateral Sclerosis (ALS)

Test Available Sequencing Del/Dup Other
Alzheimer's Disease, Familial via the PSEN1 Gene$690.00$690.00$780.00
Amyotrophic lateral sclerosis (ALS) via the hnRNPA1 Gene$680.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene$690.00$690.00$870.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the PFN1 Gene$540.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the SOD1 Gene$540.00$690.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the TARDBP Gene$580.00$690.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel$1540.00$1290.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via the CHMP2B Gene$610.00
Amyotrophic Lateral Sclerosis via the ANG Gene$370.00$690.00
Amyotrophic Lateral Sclerosis via the C9orf72 Gene Hexanucleotide Repeat Expansion$250.00
Amyotrophic Lateral Sclerosis via the OPTN Gene$690.00$690.00$830.00
Amyotrophic Lateral Sclerosis via the UBQLN2 Gene$540.00$690.00
Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene$990.00$690.00$1640.00
Classic Amyotrophic Lateral Sclerosis Sequencing Panel$1440.00$770.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Dementia Sequencing Panel$1440.00$840.00
Frontotemporal Dementia via the GRN Gene$690.00$870.00
Frontotemporal Dementia via the MAPT Gene$990.00$1130.00
Parkinson Disease Sequencing Panel$1590.00$840.00
Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset and Amyotrophic Lateral Sclerosis-8 via the VAPB Gene$580.00$690.00

Amyotrophic Lateral Sclerosis (ALS) and/or Frontotemporal Dementia

Test Available Sequencing Del/Dup Other
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel$1540.00$1290.00
Amyotrophic Lateral Sclerosis via the C9orf72 Gene Hexanucleotide Repeat Expansion$250.00
Classic Amyotrophic Lateral Sclerosis Sequencing Panel$1440.00$770.00
Dementia Sequencing Panel$1440.00$840.00

Amyotrophic Lateral Sclerosis (ALS), Juvenile

Test Available Sequencing Del/Dup Other
ALS2-Related Disorders via the ALS2 Gene$1650.00$690.00

Arts Syndrome

Test Available Sequencing Del/Dup Other
PRPS1-Related Disorders$680.00$690.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Asperger Syndrome

Test Available Sequencing Del/Dup Other
Autism Spectrum Disorders (ASD) via the NLGN4X Gene$910.00$690.00

Ataxia

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00

Ataxia, spinocerebellar

Test Available Sequencing Del/Dup Other
Autosomal Recessive Spinocerebellar Ataxia-10 via the ANO10 Gene$860.00$690.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Spinocerebellar Ataxia, Autosomal Recessive-8 (French Canadian Mutation Sanger Sequencing Panel)$650.00$690.00
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146$690.00$690.00$6200.00

Ataxia-Oculomotor Apraxia

Test Available Sequencing Del/Dup Other
Ataxia with Oculomotor Apraxia Sequencing Panel$1440.00$770.00
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel$1540.00$1290.00
Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene$690.00$690.00$750.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00

Ataxia-Telangiectasia and Ataxia-Telangiectasia-Like Disorders

Test Available Sequencing Del/Dup Other
Ataxia telangiectasia Syndrome via the ATM Gene$990.00$690.00$3040.00
Ataxia-telangiectasia-like disorder via the MRE11/MRE11A Gene$990.00$690.00$1050.00
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
Hereditary Ovarian Cancer Sequencing and Deletion/Duplication Panel$790.00
Hyper IgM Syndrome Sequencing Panel with CNV Detection$1490.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00

Athabaskan Brainstem Dysgenesis

Test Available Sequencing Del/Dup Other
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection$1890.00

Autism

Test Available Sequencing Del/Dup Other
Autism Spectrum Disorders (ASD) via the NLGN4X Gene$910.00$690.00
Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Panel$2490.00
Autism Spectrum Disorders via the CHD8 Gene$2080.00
Helsmoortel-Van der Aa Syndrome via the ADNP Gene $990.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Baraitser-Winter Syndrome

Test Available Sequencing Del/Dup Other
Deafness, Autosomal Dominant 20 (DFNA20) via the ACTG1 Gene$540.00

Basal Ganglia Calcification

Test Available Sequencing Del/Dup Other
Idiopathic Basal Ganglia Calcification Sequencing Panel$649.00$690.00
Infantile Myofibromatosis and Idiopathic Basal Ganglia Calcification via the PDGFRB Gene$690.00$1310.00

Basal Ganglia Disease, Biotin-responsive

Test Available Sequencing Del/Dup Other
Biotin-Thiamine-Responsive Basal Ganglia Disease via the SLC19A3 Gene$680.00$690.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00

Benign Familial Seizures

Test Available Sequencing Del/Dup Other
Early Infantile Epilepsies and Autism via the SCN2A Gene$990.00$690.00$1650.00
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene$690.00$690.00$1130.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy: Benign Familial Neonatal Seizures Type 2 via the KCNQ3 Gene$990.00$690.00$1220.00
Hemiplegic Migraine and PRRT2-Related Disorders via the PRRT2 Gene$540.00

Brain Small Vessel Disease

Test Available Sequencing Del/Dup Other
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00

Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency

Test Available Sequencing Del/Dup Other
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency via the BCKDK Gene$810.00$690.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00

Brown-Vialetto-Van Laere Syndrome

Test Available Sequencing Del/Dup Other
Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene$630.00$690.00
Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A2 Gene$440.00$690.00

Butyrylcholinesterase Deficiency

Test Available Sequencing Del/Dup Other
Butyrylcholinesterase Deficiency via the BCHE Gene$610.00

Central Core Disease

Test Available Sequencing Del/Dup Other
Centronuclear Myopathy Sequencing Panel$1690.00$840.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Fiber Type Disproportion Sequencing Panel$1690.00$840.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Core Myopathy Sequencing Panel$1790.00$840.00
Malignant Hyperthermia Susceptibility Sequencing Panel$1590.00$770.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
RYR1-Related Congenital Myopathies via the RYR1 Gene$1190.00$690.00$3920.00

Cerebellar Atrophy

Test Available Sequencing Del/Dup Other
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection$2240.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection$2890.00

Cerebral Amyloid Angiopathy

Test Available Sequencing Del/Dup Other
Alzheimer Disease, Familial or Cerebral Amyloid Angiopathy via the APP Gene$690.00$690.00$1060.00
Alzheimer's Disease, Familial via the APP Gene, Exons 16 and 17$370.00$690.00
Dementia Sequencing Panel$1440.00$840.00

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Test Available Sequencing Del/Dup Other
CADASIL and CARASIL Sequencing Panel$690.00
CADASIL1 via the NOTCH3 Gene$690.00$1840.00
CADASIL2 and CARASIL via the HTRA1 Gene$690.00$810.00

Cerebral Cavernous Malformations

Test Available Sequencing Del/Dup Other
Cerebral Cavernous Malformations Sequencing Panel$1440.00$770.00
Cerebral Cavernous Malformations via the CCM2 Gene$690.00$690.00$730.00
Cerebral Cavernous Malformations via the CCM2 Gene, Exons 2-10 Deletion$250.00
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene$960.00$690.00
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10$250.00$690.00
Cerebral Cavernous Malformations via the PDCD10/CCM3 Gene$590.00$690.00

Cerebral Folate Deficiency

Test Available Sequencing Del/Dup Other
Cerebral Folate Deficiency via the FOLR1 Gene$440.00$690.00
Disorders of Folate Metabolism and Transport Sequencing Panel$1290.00$730.00
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel$1590.00$1290.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00

Cerebro-Oculo-Facio-Skeletal Syndrome

Test Available Sequencing Del/Dup Other
Cockayne Syndrome via the ERCC6 Gene$690.00$690.00$1310.00

Ceroid Lipofuscinosis Neuronal

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection$2390.00
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel$750.00$1290.00
Neuronal Ceroid Lipofuscinosis 1 via the PPT1 Gene$690.00$690.00$810.00
Neuronal Ceroid Lipofuscinosis 10 via the CTSD Gene$710.00$690.00
Neuronal Ceroid Lipofuscinosis 12 via the ATP13A2 Gene$690.00$1500.00
Neuronal Ceroid Lipofuscinosis 13 via the CTSF Gene$780.00$690.00
Neuronal Ceroid Lipofuscinosis 14 via the KCTD7 Gene$650.00$690.00
Neuronal Ceroid Lipofuscinosis 2 via the TPP1 Gene$690.00$690.00$840.00
Neuronal Ceroid Lipofuscinosis 3 (Batten Disease) via the CLN3 c.461-280_677+382 Deletion$490.00
Neuronal Ceroid Lipofuscinosis 3 via the CLN3 Gene$690.00$690.00$1060.00
Neuronal Ceroid Lipofuscinosis 4 via the DNAJC5 Gene$990.00$690.00
Neuronal Ceroid Lipofuscinosis 5 via the CLN5 Gene$580.00$690.00
Neuronal Ceroid Lipofuscinosis 6 via the CLN6 Gene$690.00$690.00$710.00
Neuronal Ceroid Lipofuscinosis 7 via the MFSD8 Gene$690.00$690.00$1060.00
Neuronal Ceroid Lipofuscinosis 8 via the CLN8 Gene$580.00$690.00
Parkinson Disease Sequencing Panel$1590.00$840.00

Charcot Marie Tooth

Test Available Sequencing Del/Dup Other
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel$2090.00$1670.00
Charcot Marie Tooth - Comprehensive Sequencing Panel$2140.00$1670.00
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel$750.00$1290.00
Charcot Marie Tooth Disease via the COX6A1 Gene$490.00$690.00
Charcot Marie Tooth Type 4J via the FIG4 Gene$690.00$690.00$1320.00
Charcot-Marie-Tooth 1C via the LITAF Gene$490.00$690.00
Charcot-Marie-Tooth Autosomal Dominant Intermediate C via the YARS Gene$990.00$690.00
Charcot-Marie-Tooth Autosomal Dominant Intermediate F via the GNB4 Gene$990.00$690.00
Charcot-Marie-Tooth disease, axonal, type 20, Spinal muscular atrophy with lower extremity predominance and Mental retardation, autosomal dominant type 13 via the DYNC1H1 Gene$690.00$3660.00
Charcot-Marie-Tooth Type 2E/1F via the NEFL Gene$750.00$690.00
Charcot-Marie-Tooth Type 4B1 via the MTMR2 Gene$990.00$690.00$990.00
Charcot-Marie-Tooth Type 4B2 via the SBF2 Gene$990.00$690.00
Charcot-Marie-Tooth Type 4B3 via the SBF1 Gene$990.00$690.00$1800.00
Charcot-Marie-Tooth Type 4C via the SH3TC2 Gene$690.00$690.00
Charcot-Marie-Tooth Type 4D via the NDRG1 Gene$990.00$690.00
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Dynamin-2 Related Disorders via the DNM2 Gene$690.00$690.00$1160.00
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene$690.00$690.00$940.00
Heat Shock 22 kDa Protein-Related Disorders via the HSPB8 Gene$460.00$690.00
Heat Shock 27 kDa Protein-Related Disorders via the HSPB1 Gene$440.00$690.00
Hereditary Motor and Sensory Neuropathy IIB (HMSN2B) via the RAB7A Gene$580.00$690.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00
KARS-Related Disorders via the KARS Gene$990.00$690.00$1060.00
Laminopathies via the LMNA Gene$610.00$690.00
MFN2-Related Disorders via the MFN2 Gene$690.00$690.00$910.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
MPZ-Related Neuropathies$650.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
PMP22-Related Neuropathies$540.00$690.00
PRPS1-Related Disorders$680.00$690.00
TRPV4-related Disorders via the TRPV4 Gene$690.00$690.00$890.00

Charcot-Marie-Tooth Disease

Test Available Sequencing Del/Dup Other
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel$2090.00$1670.00
Charcot Marie Tooth - Comprehensive Sequencing Panel$2140.00$1670.00
Charcot Marie Tooth Type 2U via the MARS Gene$990.00$690.00$1130.00
Charcot-Marie-Tooth Type X-linked Dominant 6 via the PDK3 Gene$690.00$690.00$870.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00

Choroid Plexus Papilloma

Test Available Sequencing Del/Dup Other
Hereditary Ovarian Cancer Sequencing and Deletion/Duplication Panel$790.00

Combined Oxidative Phosphorylation Deficiency

Test Available Sequencing Del/Dup Other
AIFM1-Related Disorders via the AIFM1 Gene$990.00$690.00
C12orf65-Associated Optic Atrophy via the C12orf65 Gene$990.00$690.00
Combined Oxidative Phosphorylation Deficiency 14 via the FARS2 Gene$650.00$690.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Mitochondrial Combined Oxidative Phosphorylation Deficiency via the MTFMT Gene$810.00
Mitochondrial Complex V Deficiency via the ATP5A1 Gene$940.00
MRPL3-Related Combined Oxidative Phosphorylation Deficiency via the MRPL3 Gene$810.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
TSFM-Related Combined Oxidative Phosphorylation Deficiency via the TSFM Gene$780.00

Combined Saposin Deficiency

Test Available Sequencing Del/Dup Other
Metachromatic Leukodystrophy via the PSAP Gene$690.00$690.00$840.00

Congenital Cataracts, Hearing Loss, and Neurodegeneration

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00

Congenital Central Hypoventilation syndrome

Test Available Sequencing Del/Dup Other
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel$1540.00$840.00
Congenital Central Hypoventilation Syndrome (CCHS) via the ASCL1 Gene$540.00$690.00
Congenital Central Hypoventilation Syndrome (CCHS) via the BDNF Gene$490.00
Congenital Central Hypoventilation Syndrome (CCHS) via the BMP2 Gene$610.00$690.00
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2A Gene$540.00$690.00
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2B Gene$540.00$690.00
Hereditary Neuroblastoma via the PHOX2B Gene$540.00$690.00
Hirschsprung Disease 3 (HSCR3) via the GDNF Gene$540.00
Hirschsprung Disease 4 (HSCR4) via the EDN3 Gene$580.00$690.00
Waardenburg Syndrome Sequencing Panel$1290.00$840.00
Waardenburg Syndrome Type IVB via the EDN3 Gene$580.00$690.00

Congenital Disorder Of Glycosylation

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Disorder of Glycosylation, Type Iu and Secondary Dystroglycanopathy via the DPM2 Gene$490.00$690.00
Congenital Disorders of Glycosylation (CDG) Sanger Sequencing Panel 1$1790.00$770.00
Congenital Disorders of Glycosylation (CDG) Sanger Sequencing Panel 2$3370.00$840.00
Congenital Disorders of Glycosylation, Type Ia (CDG-Ia) via the PMM2 Gene$650.00$690.00
Congenital Disorders of Glycosylation, Type Ib (CDG Ib) via the MPI Gene$650.00$690.00
Congenital Disorders of Glycosylation, Type Ic (CDG Ic) via the ALG6 Gene$810.00$690.00
Congenital Disorders of Glycosylation, Type Id (CDG Id) via the ALG3 Gene$680.00$690.00
Congenital Disorders of Glycosylation, Type Ie (CDG Ie) via the DPM1 Gene$650.00$690.00
Congenital Disorders of Glycosylation, Type If (CDG If) via the MPDU1 Gene$610.00$690.00
Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via the ALG12 Gene$680.00$690.00
Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via the ALG8 Gene$810.00$690.00
Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via the ALG2 Gene$540.00$690.00
Congenital Disorders of Glycosylation, Type IIj via the COG4 Gene$1100.00
Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via the DPM3 Gene$490.00$690.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel$1890.00$1290.00
Leukocyte Adhesion Deficiency Type 2 (LADII) via the SLC35C1 Gene$490.00$690.00
Metabolic Hypoglycemia Sequencing Panel$1690.00$1290.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Pan Cardiomyopathy Sequencing Panel with CNV Detection$1980.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

Cortical Dysplasia-Focal Epilepsy Syndrome

Test Available Sequencing Del/Dup Other
Cortical Dysplasia-Focal Epilepsy Syndrome via the CNTNAP2 Gene$990.00$690.00$1220.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection$1990.00

Creatine Deficiency Syndrome

Test Available Sequencing Del/Dup Other
Creatine Deficiency Syndrome via the GAMT Gene$610.00$690.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00

De Sanctis-Cacchione Syndrome

Test Available Sequencing Del/Dup Other
Cockayne Syndrome via the ERCC6 Gene$690.00$690.00$1310.00

Deficiency Of Guanidinoacetate Methyltransferase

Test Available Sequencing Del/Dup Other
Creatine Deficiency Syndrome via the GAMT Gene$610.00$690.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00

Desmosterolosis

Test Available Sequencing Del/Dup Other
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

DOOR syndrome

Test Available Sequencing Del/Dup Other
DOORS Syndrome and TBC1D24-related Epilepsy via the TBC1D24 Gene$690.00$690.00$750.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00

Dyggve-Melchior-Clausen Syndrome

Test Available Sequencing Del/Dup Other
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

Dystonia

Test Available Sequencing Del/Dup Other
Dystonia Sequencing Panel with CNV Detection$2100.00
Dystonia via the ANO3 Gene$1590.00
Dystonia via the GNAL Gene$1590.00
Dystonia via the THAP1 Gene$1590.00
DYT1 Early-Onset Isolated Dystonia via the TOR1A Gene$580.00$690.00
GLUT1 Deficiency Syndrome via the SLC2A1 Gene$750.00$690.00
Parkinson Disease Sequencing Panel$1590.00$840.00

Encephalomyopathy

Test Available Sequencing Del/Dup Other
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel$1590.00$1290.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Methylmalonic Acidemia Sequencing Panel$1440.00$840.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
SUCLA2 -Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLA2 Gene$810.00$690.00

Encephalopathy

Test Available Sequencing Del/Dup Other
Hyperammonemia Sequencing Panel$1690.00$1670.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the DNM1L Gene$990.00

Epilepsy

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy, X-linked, with Variable Learning Disabilities and Behavior Disorders via the SYN1 Gene$840.00$690.00
Epilepsy: GNAO1-Related Early Infantile Epileptic Encephalopathy and Neurodevelopmental Disorder with Involuntary Movement via the GNAO1 Gene$690.00$690.00$750.00
Epilespy, Autosomal Dominant Lateral Temporal, via the LGI1 Gene$690.00$690.00$750.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Progressive Myoclonic Epilepsy via the GOSR2 Gene$650.00$690.00
Progressive Myoclonic Epilepsy, With or Without Renal Failure, via the SCARB2 Gene$690.00$690.00$870.00
Pyridoxine 5'-Phosphate Oxidase Deficiency via the PNPO Gene$680.00$690.00
Pyridoxine-Dependent Epilepsy via the ALDH7A1 Gene$690.00$690.00$1060.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Epilepsy Progressive Myoclonic

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Neuronal Ceroid Lipofuscinosis 14 via the KCTD7 Gene$650.00$690.00

Epilepsy with Mental Retardation

Test Available Sequencing Del/Dup Other
2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene$990.00$690.00$1340.00
Christianson Type X-Linked Mental Retardation via the SLC9A6 Gene$690.00$690.00$870.00
Chromosome 5q14.3 Deletion Syndrome via the MEF2C Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection$1990.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Epilepsy, childhood absence

Test Available Sequencing Del/Dup Other
Childhood Absence Epilepsy and Epileptic Encephalopathy via the GABRB3 Gene$690.00$690.00$840.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00

Epilepsy, familial focal with variable foci

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Familial Focal Epilepsy with Variable Foci via the DEPDC5 Gene$990.00$1990.00

Epilepsy, focal

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Focal Epilepsy with Speech Disorder with or without Intellectual Disability via the GRIN2A Gene$690.00$690.00$990.00

Epilepsy, idiopathic generalized

Test Available Sequencing Del/Dup Other
GLUT1 Deficiency Syndrome via the SLC2A1 Gene$750.00$690.00

Epilepsy, myoclonic

Test Available Sequencing Del/Dup Other
DOORS Syndrome and TBC1D24-related Epilepsy via the TBC1D24 Gene$690.00$690.00$750.00
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene$990.00$690.00$1720.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy: Dravet Syndrome Sequencing Panel$990.00$840.00
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene$680.00$690.00
Juvenile Myoclonic Epilepsy via the GABRA1 Gene$690.00$690.00$780.00

Epilepsy, Nocturnal Frontal Lobe

Test Available Sequencing Del/Dup Other
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNA4 Gene$990.00$1250.00
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNB2 Gene$650.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Malignant Migrating Partial Seizures of Infancy and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the KCNT1 Gene$690.00$690.00$1620.00

Epilepsy, Progressive Myoclonic

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Neuronal Ceroid Lipofuscinosis 14 via the KCTD7 Gene$650.00$690.00
Progressive Myoclonic Epilepsy via the GOSR2 Gene$650.00$690.00
Progressive Myoclonic Epilepsy, With or Without Renal Failure, via the SCARB2 Gene$690.00$690.00$870.00

Epilepsy, pyridoxal 5'-phosphate-dependent

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Pyridoxine 5'-Phosphate Oxidase Deficiency via the PNPO Gene$680.00$690.00

Epilepsy, pyridoxine-dependent

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Pyridoxine-Dependent Epilepsy via the ALDH7A1 Gene$690.00$690.00$1060.00

Epilepsy, Severe Myoclonic

Test Available Sequencing Del/Dup Other
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene$990.00$690.00$1720.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy: Dravet Syndrome Sequencing Panel$990.00$840.00
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene$680.00$690.00

Epilepsy, Severe Myoclonic in Infancy 

Test Available Sequencing Del/Dup Other
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene$990.00$690.00$1720.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy: Dravet Syndrome Sequencing Panel$990.00$840.00
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene$680.00$690.00

Epilepsy,  Myoclonic, Juvenile

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Juvenile Myoclonic Epilepsy via the GABRA1 Gene$690.00$690.00$780.00

Epileptic Encephalopathy

Test Available Sequencing Del/Dup Other
DOORS Syndrome and TBC1D24-related Epilepsy via the TBC1D24 Gene$690.00$690.00$750.00
Early Infantile Epilepsies and Autism via the SCN2A Gene$990.00$690.00$1650.00
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene$690.00$690.00$1130.00
Early Infantile Epileptic Encephalopathy and Intellectual Disability via the SPTAN1 Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene$690.00$690.00$1250.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy via the KCNA2 Gene$580.00
Early Infantile Epileptic Encephalopathy via the SCN8A Gene$690.00$690.00$1560.00
Early Infantile Epileptic Encephalopathy via the SLC25A22 Gene$780.00$690.00
Early Infantile Epileptic Encephalopathy via the SZT2 Gene$690.00$690.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Early Infantile Epileptic Encephalopathy-12 via the PLCB1 Gene$690.00$690.00
Early Infantile Epileptic Encephalopathy-15 and Intellectual Disability via the ST3GAL3 Gene$840.00$690.00
Early Infantile Epileptic encephalopathy-4/Ohtahara syndrome via the STXBP1 Gene$990.00$690.00$1160.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy and Intellectual Disability in Females via the PCDH19 Gene$690.00$690.00$870.00
Epilepsy: Early Infantile Epileptic Encephalopathy via the ARHGEF9 Gene$990.00$690.00$990.00
Epilepsy: GNAO1-Related Early Infantile Epileptic Encephalopathy and Neurodevelopmental Disorder with Involuntary Movement via the GNAO1 Gene$690.00$690.00$750.00
Epilepsy: Ohtahara Syndrome Sequencing Panel$1690.00$840.00
Epileptic Encephalopathy and Intellectual Disability via the CHD2 Gene$690.00$690.00$1870.00
Malignant Migrating Partial Seizures of Infancy and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the KCNT1 Gene$690.00$690.00$1620.00
Microcephaly, Seizures and Developmental Delay via the PNKP Gene$970.00$690.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection$1990.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00
X-linked Lissencephaly-2 via the ARX Gene$650.00$690.00

Epileptic Encephalopathy, Early Infantile

Test Available Sequencing Del/Dup Other
DOORS Syndrome and TBC1D24-related Epilepsy via the TBC1D24 Gene$690.00$690.00$750.00
Early Infantile Epileptic Encephalopathy or Kohlschütter-Tönz Syndrome via the SLC13A5 Gene$840.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Epileptic, encephalopathy

Test Available Sequencing Del/Dup Other
Early Infantile Epilepsies and Autism via the SCN2A Gene$990.00$690.00$1650.00
Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via the KCNQ2 Gene$690.00$690.00$1130.00
Early Infantile Epileptic Encephalopathy and Intellectual Disability via the SPTAN1 Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy: Ohtahara Syndrome Sequencing Panel$1690.00$840.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00

Epileptic, encephalopathy with Rett-like syndrome

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene$690.00$690.00$1250.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy: Ohtahara Syndrome Sequencing Panel$1690.00$840.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection$1990.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Episodic Kinesigenic Dyskinesia

Test Available Sequencing Del/Dup Other
Hemiplegic Migraine and PRRT2-Related Disorders via the PRRT2 Gene$540.00

Episodic Pain Syndrome

Test Available Sequencing Del/Dup Other
Episodic Pain Syndrome Sequencing Panel$1440.00$690.00
Familial Episodic Pain Type 2 Syndrome via the SCN10A Gene$990.00$1620.00
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene$690.00$1620.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00

Familial Dysautonomia

Test Available Sequencing Del/Dup Other
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Familial Dysautonomia via the IKBKAP Gene - Full Gene Sequencing$690.00$1650.00
Familial Dysautonomia via the IKBKAP Gene - Targeted Variants Analysis$440.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00

Familial Hemiplegic Migraine

Test Available Sequencing Del/Dup Other
Familial Hemiplegic Migraine 1 (FHM1) via the CACNA1A Gene$1290.00$2580.00
Familial Hemiplegic Migraine 2 (FHM2) via the ATP1A2 Gene$990.00$690.00$1310.00
Familial Hemiplegic Migraine Sequencing Panel$1640.00$730.00

Familial Infantile Convulsions

Test Available Sequencing Del/Dup Other
Dystonia Sequencing Panel with CNV Detection$2100.00
Hemiplegic Migraine and PRRT2-Related Disorders via the PRRT2 Gene$540.00

Familial Stuttering

Test Available Sequencing Del/Dup Other
Mucolipidosis and Stuttering via the GNPTAB Gene$690.00$690.00$1160.00
Mucolipidosis and Stuttering via the GNPTG Gene$540.00$690.00
Stuttering Sequencing Panel$690.00$770.00
Stuttering via the NAGPA Gene$690.00$690.00$710.00

Fazio-Londe Disease

Test Available Sequencing Del/Dup Other
Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene$630.00$690.00

Fragile X Tremor/Ataxia Syndrome

Test Available Sequencing Del/Dup Other
Fragile X Syndrome or Premature Ovarian Failure (POF1) via FMR1 CGG Repeat Expansion$690.00$390.00

Frontotemporal Dementia

Test Available Sequencing Del/Dup Other
Alzheimer's Disease, Familial via the PSEN1 Gene$690.00$690.00$780.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel$1540.00$1290.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via the CHMP2B Gene$610.00
Dementia Sequencing Panel$1440.00$840.00
Frontotemporal Dementia via the GRN Gene$690.00$870.00
Frontotemporal Dementia via the MAPT Gene$990.00$1130.00
Parkinson Disease Sequencing Panel$1590.00$840.00

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Test Available Sequencing Del/Dup Other
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel$1540.00$1290.00
Amyotrophic Lateral Sclerosis via the C9orf72 Gene Hexanucleotide Repeat Expansion$250.00
Classic Amyotrophic Lateral Sclerosis Sequencing Panel$1440.00$770.00
Dementia Sequencing Panel$1440.00$840.00

Ganglioside Sialidase Deficiency

Test Available Sequencing Del/Dup Other
Mucolipidosis Type IV via the MCOLN1 Gene$940.00

Gaucher Disease

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel$2580.00
Fetal Concerns Sequencing Panel$1590.00
Gaucher Disease via the GBA Gene$850.00
Metachromatic Leukodystrophy via the PSAP Gene$690.00$690.00$840.00

Generalized Epilepsy With Febrile Seizures Plus

Test Available Sequencing Del/Dup Other
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene$990.00$690.00$1720.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy: Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Sequencing Panel$990.00$840.00
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene$680.00$690.00
Generalized Epilepsy With Febrile Seizures Plus via the GABRG2 Gene$990.00$690.00
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene$990.00$690.00$1810.00

GLUT1 Deficiency Syndrome

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
GLUT1 Deficiency Syndrome via the SLC2A1 Gene$750.00$690.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00

GM1 Gangliosidosis

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel$2580.00
Fetal Concerns Sequencing Panel$1590.00
GM1 Gangliodisosis and Mucopolysaccharidosis Type IVB / Morquio Type B via the GLB1 Gene$870.00$690.00

Greig Cephalopolysyndactyly Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection$2690.00
GLI3-Related Disorders via the GLI3 Gene$1020.00$690.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

Holoprosencephaly

Test Available Sequencing Del/Dup Other
Autosomal Dominant, Non-Syndromic Holoprosencephaly via the GAS1 Gene$440.00$690.00
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection$1490.00
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel$1540.00$1290.00
Holoprosencephaly-11 via The CDON Gene$990.00$690.00$1270.00
Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic) via the SIX3 Gene$560.00$690.00
Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via the SHH Gene$670.00$690.00
Holoprosencephaly-4 (Autosomal Dominant, Nonsyndromic) via the TGIF1 Gene$440.00$690.00
Holoprosencephaly-5 (Autosomal Dominant, Nonsyndromic) via the ZIC2 Gene$690.00$690.00$730.00
Holoprosencephaly-7 (Autosomal Dominant, Nonsyndromic) via the PTCH1 Gene$1130.00$690.00
Holoprosencephaly-9 (Autosomal Dominant, Nonsyndromic) via the GLI2 Gene$990.00$690.00$1080.00
Microform Holoprosencephaly (HPE10) via the DISP1 Gene$690.00$690.00$940.00
Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the PTCH1 Gene$1130.00$690.00

Huntington Disease

Test Available Sequencing Del/Dup Other
Huntington Disease via the HTT CAG Repeat Expansion$250.00

Hydrocephalus

Test Available Sequencing Del/Dup Other
L1 Syndrome via the L1CAM Gene$1220.00$690.00

Hyperphosphatasia with Mental Retardation

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Hyperphosphatasia with Intellectual Disability via the PIGO Gene$910.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

Test Available Sequencing Del/Dup Other
Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene$690.00$690.00$780.00

Inclusion Body Myopathy

Test Available Sequencing Del/Dup Other
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel$1540.00$1290.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via the MYH2 Gene$1650.00$690.00
Inclusion Body Myopathy-2 (Autosomal Recessive) and Nonaka Myopathy via the GNE Gene$690.00$690.00$810.00

Infantile cerebellar-retinal degeneration

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene$990.00$690.00$1060.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Infantile Nystagmus

Test Available Sequencing Del/Dup Other
FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via the FRMD7 Gene$940.00$690.00

Infantile-Onset Ascending Hereditary Spastic Paralysis

Test Available Sequencing Del/Dup Other
ALS2-Related Disorders via the ALS2 Gene$1650.00$690.00

Insensitivity To Pain

Test Available Sequencing Del/Dup Other
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Congenital Insensitivity to Pain with Anhidrosis via the NTRK1 Gene$990.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00

Intellectual Disability

Test Available Sequencing Del/Dup Other
Baraitser-Winter Cerebrofrontofacial Syndrome Type 1 (Syndromic Intellectual Disability) via the ACTB Gene$580.00
Dias-Logan Syndrome via the BCL11A Gene$840.00
FTO-Deficiency Syndrome via the FTO Gene$910.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
Syndromic Intellectual Disability via the PURA Gene$680.00
Tenorio Syndrome via the RNF125 Gene$710.00
X-Linked Intellectual Disability via the CLCN4 Gene$840.00

Juvenile Primary Lateral Sclerosis

Test Available Sequencing Del/Dup Other
ALS2-Related Disorders via the ALS2 Gene$1650.00$690.00

Kohlschutter-Tonz syndrome

Test Available Sequencing Del/Dup Other
Amelogenesis Imperfecta Sequencing Panel with CNV Detection$1740.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Kohlschutter-Tonz syndrome (KTS) via the ROGDI Gene$690.00$690.00$840.00

Krabbe Disease

Test Available Sequencing Del/Dup Other
Krabbe Disease via GALC Exons 11-17 (502T/Del)$250.00
Krabbe Disease via the GALC Gene$910.00$690.00
Metachromatic Leukodystrophy via the PSAP Gene$690.00$690.00$840.00

Lafora Disease

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Lafora Disease via the EPM2A Gene$580.00$690.00
Lafora Disease via the NHLRC1 Gene$540.00$690.00

Leigh Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
French-Canadian type of Leigh syndrome via the LRPPRC gene$1940.00$690.00
Leigh Syndrome Associated with Isolated Complex I Deficiency via the NDUFA12 Gene$610.00
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFA9 Gene$910.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFAF2 Gene$580.00
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFS7 Gene$840.00
Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$1980.00
Mitochondrial Complex I Deficiency via the NDUFS4 Gene$650.00
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$1650.00
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$1710.00
Mitochondrial Complex IV Deficiency via the COX15 Gene$1590.00
NDUFA2-Related Leigh Syndrome (LS) via the NDUFA2 Gene$490.00
NDUFAF6-Related Leigh Syndrome (LS) via the NDUFAF6 Gene$810.00
SURF1-Related Leigh Syndrome (LS) via the SURF1 Gene$580.00

Lesch-Lyhan Syndrome

Test Available Sequencing Del/Dup Other
Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene$690.00$690.00$780.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Leukodystrophy

Test Available Sequencing Del/Dup Other
Hereditary Lymphedema via the GJC2 Gene$540.00$690.00
Spastic Paraplegia 13 via the HSPD1 Gene$840.00

Leukoencephalopathy with Vanishing white Matter

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection$2240.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel$1440.00$840.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B1 Gene$650.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B2 Gene$610.00$690.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B3 Gene$690.00$690.00$750.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B4 Gene$690.00$690.00$750.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via the EIF2B5 Gene$780.00$690.00
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection$1640.00

Lissencephaly

Test Available Sequencing Del/Dup Other
Classic Lissencephaly via the DCX Gene$610.00$690.00
Classic lissencephaly via the PAFAH1B1/LIS1 Gene$710.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection$2240.00
Disorders of Sex Development Sequencing Panel with CNV Detection$1990.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Lissencephaly 3 via the TUBA1A Gene$490.00$690.00
Lissencephaly with Cerebellar Hypoplasia via the RELN Gene$990.00$690.00$2390.00
Male Infertility Sequencing Panel with CNV Detection$2190.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00
X-linked Lissencephaly-2 via the ARX Gene$650.00$690.00

Medulloblastoma

Test Available Sequencing Del/Dup Other
Hereditary Ovarian Cancer Sequencing and Deletion/Duplication Panel$790.00
Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the SUFU Gene$840.00$690.00

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Test Available Sequencing Del/Dup Other
Megalencephalic Leukoencephalopathy with Subcortical Cysts Sequencing Panel$1340.00$730.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts via the HEPACAM Gene$650.00$690.00
Megalencephalic Leukoencephalopathy with Subcortical Cysts via the MLC1 Gene$690.00$690.00$780.00

Meningioma

Test Available Sequencing Del/Dup Other
Familial Meningioma via the SMARCE1 Gene$690.00$690.00$870.00
Hereditary Ovarian Cancer Sequencing and Deletion/Duplication Panel$790.00
Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the SUFU Gene$840.00$690.00

Menkes Disease

Test Available Sequencing Del/Dup Other
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene$1090.00$690.00$1250.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Mental Retardation

Test Available Sequencing Del/Dup Other
2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene$990.00$690.00$1340.00
Autism Spectrum Disorders via the FOXP1 Gene$970.00$690.00
CASK Related Disorders, Microcephaly with Pontine and Cerebellar Hypoplasia, X-linked intellectual disability with or without Nystagmus and FG Syndrome Type 4 via the CASK Gene$1440.00$690.00
Charcot-Marie-Tooth disease, axonal, type 20, Spinal muscular atrophy with lower extremity predominance and Mental retardation, autosomal dominant type 13 via the DYNC1H1 Gene$690.00$3660.00
Chromosome 5q14.3 Deletion Syndrome via the MEF2C Gene$990.00$690.00
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection$1490.00
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection$2240.00
Disorders of Sex Development Sequencing Panel with CNV Detection$1990.00
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel$1590.00$1290.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy-15 and Intellectual Disability via the ST3GAL3 Gene$840.00$690.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
HCFC1-Related Disorders via the HCFC1 Gene$990.00$1500.00
Hyperammonemia Sequencing Panel$1690.00$1670.00
Intellectual Disability (Syndromic and Non-Syndromic) via the UPF3B Gene$810.00$690.00
Intellectual Disability (Syndromic and Non-Syndromic) via the HUWE1 Gene$690.00$1590.00
Intellectual Disability (Syndromic and Non-Syndromic) via the IQSEC2 Gene$1380.00$690.00
Intellectual Disability via the ACSL4 Gene$910.00$690.00
Intellectual Disability via the PAK3 Gene$910.00$690.00
Intellectual Disability, X-linked, Claes-Jensen Type via the KDM5C Gene$1440.00$690.00
Male Infertility Sequencing Panel with CNV Detection$2190.00
Methylmalonic Aciduria and Homocystinuria Sequencing Panel$1440.00$770.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Non-syndromic Autosomal Recessive Intellectual Diasbility via the TRAPPC9 Gene$1220.00$690.00
Non-Syndromic Autosomal Recessive Intellectual Disability via the TUSC3 Gene$750.00$690.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection$1990.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00
X-linked Lissencephaly-2 via the ARX Gene$650.00$690.00

Mental Retardation, Autosomal Dominant

Test Available Sequencing Del/Dup Other
KIF1A-Related Disorders via the KIF1A Gene$690.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
Syndromic Intellectual Disability/Autism Spectrum Disorder via the DYRK1A Gene$990.00$690.00

Mental Retardation, Autosomal Recessive

Test Available Sequencing Del/Dup Other
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00

Mental Retardation, X linked

Test Available Sequencing Del/Dup Other
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Mental Retardation, X-linked

Test Available Sequencing Del/Dup Other
Cabezas X-Linked Mental Retardation Syndrome via the CUL4B Gene$1090.00$690.00
Christianson Type X-Linked Mental Retardation via the SLC9A6 Gene$690.00$690.00$870.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection$1990.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Metachromatic Leukodystrophy

Test Available Sequencing Del/Dup Other
Metachromatic Leukodystrophy Sequencing Panel$690.00$730.00
Metachromatic Leukodystrophy via the ARSA Gene$580.00$690.00

Mevalonic Aciduria

Test Available Sequencing Del/Dup Other
Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene$690.00$690.00$780.00

Microcephaly

Test Available Sequencing Del/Dup Other
CENPJ-Related Disorders via the CENPJ Gene$1060.00$690.00
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
Hereditary Ovarian Cancer Sequencing and Deletion/Duplication Panel$790.00
Hyper IgM Syndrome Sequencing Panel with CNV Detection$1490.00
Lymphedema Sequencing Panel$1940.00$840.00
Microcephaly, Lymphedema, and Chorioretinal Dysplasia (MLCRD) / Chorioretinal Dysplasia, Microcephaly, and Mental Retardation (CDMMR) / Familial Exudative Vitreoretinopathy (FEVR) via the KIF11 Gene$690.00$690.00$1380.00
Nijmegen Breakage Syndrome via the NBN Gene$690.00$690.00$1060.00
Primary Microcephaly, Autosomal Recessive, Sanger Sequencing Panel$8340.00$840.00
Primary Microcephaly, Autosomal Recessive, via the ASPM Gene$2170.00$690.00
Primary Microcephaly, Autosomal Recessive, via the CDK5RAP2 Gene$1750.00$690.00
Primary Microcephaly, Autosomal Recessive, via the CEP152 Gene$1490.00$690.00
Primary Microcephaly, Autosomal Recessive, via the MCPH1 Gene$780.00$690.00
Primary Microcephaly, Autosomal Recessive, via the STIL Gene$1130.00$690.00
Primary Microcephaly, Autosomal Recessive, via the WDR62 Gene$1430.00$690.00
Primordial Dwarfism via the XRCC4 Gene$750.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00

Mitochondrial DNA Depletion Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene$580.00$690.00
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the DGUOK Gene$650.00$690.00
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel$1590.00$1290.00
FBXL4-Related Mitochondrial DNA Depletion Syndrome via the FBXL4 Gene$680.00$690.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Methylmalonic Acidemia Sequencing Panel$1440.00$840.00
MGME1-Related Mitochondrial DNA Depletion Syndrome via the MGME1 Gene$580.00$690.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00$1280.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$690.00$690.00$780.00
SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene$690.00$690.00$750.00
SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene$690.00$690.00$780.00
TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene$690.00$690.00$710.00

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome

Test Available Sequencing Del/Dup Other
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via the TYMP Gene$690.00$690.00$710.00

Mohr-Tranebjaerg Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene$490.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Moyamoya Disease

Test Available Sequencing Del/Dup Other
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the ACTA2 gene$650.00$690.00

Myoclonic Epilepsy

Test Available Sequencing Del/Dup Other
DOORS Syndrome and TBC1D24-related Epilepsy via the TBC1D24 Gene$690.00$690.00$750.00
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene$990.00$690.00$1720.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Epilepsy: Dravet Syndrome Sequencing Panel$990.00$840.00
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene$680.00$690.00

Myoclonus, Intractable, Neonatal

Test Available Sequencing Del/Dup Other
Spastic Paraplegia 10 via the KIF5A Gene$690.00$1590.00

Navajo Neurohepatopathy

Test Available Sequencing Del/Dup Other
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
MPV17-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the MPV17 Gene$540.00$690.00

Neurodegeneration

Test Available Sequencing Del/Dup Other
Beta-propeller Protein-associated Neurodegeneration (BPAN) via the WDR45 Gene$680.00
COASY Protein-Associated Neurodegeneration via the COASY Gene$1590.00
Mitochondrial Membrane Protein-Associated Neurodegeneration via the C19orf12 Gene$490.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection$2390.00
PLA2G6-Associated Neurodegeneration, Infantile Neuroaxonal Dystrophy and Parkinson Disease via the PLA2G6 Gene$990.00$690.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection$1990.00
Woodhouse-Sakati Syndrome via the DCAF17 Gene$1100.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Neurofibromatosis

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Hereditary Ovarian Cancer Sequencing and Deletion/Duplication Panel$790.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel$1490.00$1290.00
Interstitial Lung Disease Sequencing Panel with CNV Detection$1770.00
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel$1440.00$960.00
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene$990.00$2320.00
Neurofibromatosis Type 2 via the NF2 Gene$910.00$690.00

Neuromyotonia and axonal neuropathy, autosomal recessive

Test Available Sequencing Del/Dup Other
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Peripheral Neuropathies via the HINT1 Gene$490.00$690.00

Neuronopathy, distal hereditary motor

Test Available Sequencing Del/Dup Other
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Distal Hereditary Motor Neuropathy, Type 7A via the SLC5A7 Gene$690.00$690.00$750.00
Dynactin-Related Disorders via the DCTN1 Gene$690.00$690.00$1650.00
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene$690.00$690.00$940.00
Heat Shock 22 kDa Protein-Related Disorders via the HSPB8 Gene$460.00$690.00
Heat Shock 27 kDa Protein-Related Disorders via the HSPB1 Gene$440.00$690.00
REEP1-Related Disorders via the REEP1 Gene$610.00$690.00
Seipin-Related Disorders via the BSCL2 Gene$690.00$690.00$780.00

Neuropathy Hereditary Sensory and Autonomic

Test Available Sequencing Del/Dup Other
AMPD2-Related Disorders via the AMPD2 Gene$1490.00
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel$2090.00$1670.00
Charcot Marie Tooth - Comprehensive Sequencing Panel$2140.00$1670.00
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection$2340.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Cutis Laxa via the FBLN5 Gene$840.00$690.00
Episodic Pain Syndrome Sequencing Panel$1440.00$690.00
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene$690.00$1620.00
Hereditary Motor and Sensory Neuropathy IIB (HMSN2B) via the RAB7A Gene$580.00$690.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00
Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) via the NGF Gene$490.00
Hereditary Sensory and Autonomic Neuropathy Type VIII via the PRDM12 Gene$680.00
Hereditary Sensory Neuropathy Type IA via the SPTLC1 Gene$1130.00
Hereditary Sensory Neuropathy with Spastic Paraplegia via the CCT5 Gene$990.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection$2540.00
KIF1A-Related Disorders via the KIF1A Gene$690.00
TFG-Related Disorders via the TFG Gene$910.00

Neuropathy, Giant Axonal

Test Available Sequencing Del/Dup Other
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Giant Axonal Neuropathy via the GAN Gene$690.00$690.00$840.00

Neuropathy, Hereditary Sensory

Test Available Sequencing Del/Dup Other
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel$2090.00$1670.00
Charcot Marie Tooth - Comprehensive Sequencing Panel$2140.00$1670.00
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel$750.00$1290.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00
Hereditary Sensory Neuropathy, Type IE via the DNMT1 Gene$690.00$690.00$1960.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Night Blindness, Congenital Stationary

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Cone-Rod Dystrophy via the CABP4 Gene$610.00$690.00
Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene$990.00$690.00$990.00
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection$1590.00
Leber Congenital Amaurosis Sequencing Panel with CNV Detection$1690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Occipital Horn Syndrome

Test Available Sequencing Del/Dup Other
Ehlers-Danlos Syndrome Sequencing Panel$990.00$1290.00
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene$1090.00$690.00$1250.00

Optic Atrophy

Test Available Sequencing Del/Dup Other
Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via the OPA1 Gene$690.00$690.00$1750.00
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene$490.00$690.00
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via the NR2F1 Gene$580.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Optic Atrophy 7 (OPA7) via the TMEM126A Gene$540.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00$1280.00

Optic Atrophy And Cataract

Test Available Sequencing Del/Dup Other
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene$490.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Osteodysplasia

Test Available Sequencing Del/Dup Other
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Sequencing Panel$990.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00
TREM2-Related Disorders via the TREM2 Gene$580.00

Pallister-Hall Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection$2690.00
GLI3-Related Disorders via the GLI3 Gene$1020.00$690.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

Parkinson Disease

Test Available Sequencing Del/Dup Other
Parkinson Disease Sequencing Panel$1590.00$840.00
Parkinson Disease via the FBXO7 Gene$690.00$810.00
Parkinson Disease via the LRRK2 Gene$990.00$690.00
Parkinson's Disease, Early Onset via the PARK7 Gene$650.00$690.00
Parkinson's Disease, Early Onset via the PINK1 Gene$690.00$690.00$780.00
Parkinson's Disease, Juvenile via the PARK2 Gene$690.00$690.00$840.00
Parkinson’s Disease via the SNCA Gene$990.00$690.00
PLA2G6-Associated Neurodegeneration, Infantile Neuroaxonal Dystrophy and Parkinson Disease via the PLA2G6 Gene$990.00$690.00

Partial Agenesis of the Corpus Callosum

Test Available Sequencing Del/Dup Other
L1 Syndrome via the L1CAM Gene$1220.00$690.00

Pelizaeus-Merzbacher Disease

Test Available Sequencing Del/Dup Other
PLP1-Related Disorders via the PLP1 Gene$610.00$690.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Periventricular Heterotopia

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$690.00$1960.00
Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene$690.00$690.00$2020.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Peroxisomal Acyl-CoA Oxidase Deficiency

Test Available Sequencing Del/Dup Other
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene$990.00$690.00$990.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the DNM1L Gene$990.00

Perrault Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene$680.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection$2240.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Perrault Syndrome Type 1 via the HSD17B4 Gene$990.00$690.00$1380.00
Perrault Syndrome Type 2 via the HARS2 Gene$780.00$690.00
Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via the CLPP Gene$650.00$690.00
Perrault Syndrome Type 4 via the LARS2 Gene$1160.00$690.00
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection$1640.00

Perry Syndrome

Test Available Sequencing Del/Dup Other
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Dynactin-Related Disorders via the DCTN1 Gene$690.00$690.00$1650.00

Polymicrogyria

Test Available Sequencing Del/Dup Other
Bilateral frontoparietal polymicrogyria (BFPP) via the ADGRG1 (GPR56) Gene$840.00$690.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection$1890.00

Pontocerebellar Hypoplasia

Test Available Sequencing Del/Dup Other
Pontocerebellar Hypoplasia Type 1A via the VRK1 Gene$840.00$690.00
Pontocerebellar Hypoplasia Type 1B via the EXOSC3 Gene$580.00
Pontocerebellar Hypoplasia Type 2 and Type 4 via the TSEN2 Gene$810.00$690.00
Pontocerebellar Hypoplasia Type 2 and Type 4 via the TSEN34 Gene$520.00$690.00
Pontocerebellar Hypoplasia Type 2, Type 4 and Type 5 via the TSEN54 Gene$830.00$690.00
Pontocerebellar Hypoplasia Type 6 via the RARS2 Gene$1130.00$690.00

Prader-Willi Syndrome

Test Available Sequencing Del/Dup Other
Prader-Willi Syndrome by MS-MLPA$540.00

Progressive External Ophthalmoplegia with Mitochondrial DNA Depletion

Test Available Sequencing Del/Dup Other
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene$580.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene$680.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene$990.00$690.00$1340.00
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene$690.00$690.00$710.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00$1280.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$690.00$690.00$780.00

Progressive Sclerosing Poliodystrophy

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00$1280.00

Proud Levine Carpenter Syndrome

Test Available Sequencing Del/Dup Other
X-linked Lissencephaly-2 via the ARX Gene$650.00$690.00

Pyridoxal 5'-Phosphate-Dependent Epilepsy

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Pyridoxine 5'-Phosphate Oxidase Deficiency via the PNPO Gene$680.00$690.00

Pyridoxine-Dependent Epilepsy

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Pyridoxine-Dependent Epilepsy via the ALDH7A1 Gene$690.00$690.00$1060.00

Rett Syndrome

Test Available Sequencing Del/Dup Other
Congenital Variant Rett syndrome or FOXG1 syndrome via the FOXG1 Gene$650.00$690.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy:
Dominant and X-linked Sequencing Panel
$1290.00$1290.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$2340.00
Rett Syndrome via the MECP2 Gene$690.00$690.00$750.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection$1990.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Sandhoff Disease

Test Available Sequencing Del/Dup Other
Sandhoff Disease via the HEXB Gene$870.00$690.00

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

Test Available Sequencing Del/Dup Other
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00$1280.00

Sepiapterin Reductase Deficiency

Test Available Sequencing Del/Dup Other
Dystonia Sequencing Panel with CNV Detection$2100.00
Sepiapterin Reductase (SR) Deficiency via the SPR Gene$540.00

Spastic Ataxia

Test Available Sequencing Del/Dup Other
Optic Atrophy Sequencing Panel$1590.00$1290.00
Spastic Ataxia with Optic Atrophy (SPAX4) via the MTPAP Gene$690.00$690.00
Spastic Paraplegia 58 via the KIF1C Gene$1310.00

Spastic Ataxia Charlevoix-Saguenay Type

Test Available Sequencing Del/Dup Other
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via the SACS Gene$1960.00$690.00

Spastic Paraplegia

Test Available Sequencing Del/Dup Other
AMPD2-Related Disorders via the AMPD2 Gene$1490.00
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection$2340.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection$2540.00
KIF1A-Related Disorders via the KIF1A Gene$690.00
L1 Syndrome via the L1CAM Gene$1220.00$690.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection$2390.00
Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 Gene$690.00$690.00$990.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
PLP1-Related Disorders via the PLP1 Gene$610.00$690.00
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection$2090.00
REEP1-Related Disorders via the REEP1 Gene$610.00$690.00
Seipin-Related Disorders via the BSCL2 Gene$690.00$690.00$780.00
Spastic Paraplegia 10 via the KIF5A Gene$690.00$1590.00
Spastic Paraplegia 11 via the SPG11 Gene$2300.00
Spastic Paraplegia 12 via the RTN2 Gene$1590.00
Spastic Paraplegia 13 via the HSPD1 Gene$840.00
Spastic Paraplegia 15 via the ZFYVE26 Gene$2080.00
Spastic Paraplegia 18 via the ERLIN2 Gene$1590.00
Spastic Paraplegia 21 (Mast Syndrome) via the SPG21(ACP33) Gene$750.00
Spastic Paraplegia 26 via the B4GALNT1 Gene$1590.00
Spastic Paraplegia 28 via the DDHD1 Gene$1220.00
Spastic Paraplegia 35 via the FA2H Gene$710.00
Spastic Paraplegia 3A via the ATL1 Gene$690.00$970.00
Spastic Paraplegia 4 via the SPAST Gene$1100.00
Spastic Paraplegia 46 via the GBA2 Gene$1590.00
Spastic Paraplegia 47 via the AP4B1 Gene$1590.00
Spastic Paraplegia 48 via the AP5Z1 Gene$1590.00
Spastic Paraplegia 49 via the TECPR2 Gene$1590.00
Spastic Paraplegia 50 via the AP4M1 Gene$1590.00
Spastic Paraplegia 51 via the AP4E1 Gene$1590.00
Spastic Paraplegia 52 via the AP4S1 Gene$610.00
Spastic Paraplegia 53 via the VPS37A Gene$870.00
Spastic Paraplegia 54 via the DDHD2 Gene$690.00$1590.00
Spastic Paraplegia 56 via the CYP2U1 Gene$750.00
Spastic Paraplegia 5A via the CYP7B1 Gene$710.00
Spastic Paraplegia 6 via the NIPA1 Gene$610.00
Spastic Paraplegia 61 via the ARL6IP1 Gene$680.00
Spastic Paraplegia 72 via the REEP2 Gene$680.00
Spastic Paraplegia 75 via the MAG Gene$840.00
Spastic Paraplegia 8 via the WASHC5/KIAA0196 Gene$1470.00
TFG-Related Disorders via the TFG Gene$910.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Sphingolipid Activator Protein 1 Deficiency

Test Available Sequencing Del/Dup Other
Metachromatic Leukodystrophy Sequencing Panel$690.00$730.00
Metachromatic Leukodystrophy via the PSAP Gene$690.00$690.00$840.00

Spinocerebellar Ataxia

Test Available Sequencing Del/Dup Other
Ataxia with Oculomotor Apraxia Sequencing Panel$1440.00$770.00
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene$680.00$690.00
Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene$990.00$690.00$1640.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Spinocerebellar Ataxia 21 via the TMEM240 Gene$680.00

Spinocerebellar ataxia, autosomal recessive

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Spinocerebellar Ataxia-12 via the WWOX Gene$690.00$780.00

Spongy Degeneration Of Central Nervous System

Test Available Sequencing Del/Dup Other
Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene$680.00

Tay-Sachs disease

Test Available Sequencing Del/Dup Other
GM2-Gangliosidosis Variant AB via the GM2A Gene$370.00$690.00
Tay-Sachs Disease via the French Canadian Deletion in the HEXA Gene$490.00$690.00
Tay-Sachs Disease via the HEXA Gene$840.00$690.00

Unverricht-Lundborg Syndrome

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Epilepsy: Unverricht-Lundborg Disease via the CSTB Gene$490.00$690.00

Van Maldergem Syndrome 1

Test Available Sequencing Del/Dup Other
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via the DCHS1 Gene$1900.00

Variegate Porphyria

Test Available Sequencing Del/Dup Other
Acute/Neurovisceral Porphyria Sequencing Panel$690.00$770.00
Chronic/Cutaneous Porphyria Sequencing Panel$1390.00$840.00
Porphyria Sequencing Panel$1390.00$840.00
Variegate Porphyria via the PPOX Gene$690.00$690.00$910.00

Watson Syndrome

Test Available Sequencing Del/Dup Other
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene$990.00$2320.00

Wolfram Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
Wolfram Syndrome Sanger Sequencing Panel$1310.00$730.00
Wolfram Syndrome Type 2 via the CISD2 Gene$440.00$690.00

Wolfram-Like Syndrome, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Optic Atrophy Sequencing Panel$1590.00$1290.00
WFS1-Related Disorders via the WFS1 Gene$870.00$690.00
Wolfram Syndrome Sanger Sequencing Panel$1310.00$730.00

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