Test Descriptions Found:

777

Neuromuscular Disorders

CMA

Alexander Disease

Test Available Sequencing Del/Dup Other
Alexander Disease via the GFAP Gene$870.00

Allan-Herndon-Dudley Syndrome

Test Available Sequencing Del/Dup Other
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene$680.00$690.00
Complex Hereditary Spastic Paraplegia Sequencing Panel$2340.00$1290.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel$2540.00$1290.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Alpha-Glucosidase Deficiency

Test Available Sequencing Del/Dup Other
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel$1890.00$1290.00
Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene$910.00$690.00
Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene, Exon 18 Deletion$490.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Alpha-Methylacyl-CoA Racemase Deficiency

Test Available Sequencing Del/Dup Other
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00

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$780.00$690.00
Amyotrophic lateral sclerosis (ALS) via the hnRNPA1 Gene$680.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene$870.00$690.00
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$830.00$690.00
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
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$870.00
Frontotemporal Dementia via the MAPT Gene$990.00
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

Andermann Syndrome

Test Available Sequencing Del/Dup Other
Andermann Syndrome via the SLC12A6 Gene$990.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00

Ataxia

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00

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$750.00$690.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00

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

Becker Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dystrophinopathy via the DMD Gene$990.00$690.00

Benign Hereditary Chorea

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene$680.00$690.00

Bethlem Myopathy

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Type VI Collagenopathy via the COL6A1 Gene$990.00$690.00
Type VI Collagenopathy via the COL6A2 Gene$990.00$690.00
Type VI Collagenopathy via the COL6A3 Gene$990.00$690.00
Type VI-Related Collagenopathy Sequencing Panel$1490.00$840.00
Type VI-Related Collagenopathy via the COL12A1 Gene$990.00$690.00
Usher Syndrome Sequencing Panel$1590.00$1290.00
Usher Syndrome Type 1, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via the MYO7A Gene$990.00$690.00

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

Centronuclear Myopathy

Test Available Sequencing Del/Dup Other
Centronuclear Myopathy Sequencing Panel$1690.00$840.00
Centronuclear Myopathy-3, Autosomal Dominant via the MYF6 Gene$540.00$690.00
Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 Gene$750.00$690.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Dynamin-2 Related Disorders via the DNM2 Gene$990.00$690.00

Centronuclear Myopathy, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Centronuclear Myopathy Sequencing Panel$1690.00$840.00
Centronuclear Myopathy-3, Autosomal Dominant via the MYF6 Gene$540.00$690.00
Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 Gene$750.00$690.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Dynamin-2 Related Disorders via the DNM2 Gene$990.00$690.00

Centronuclear Myopathy, Autosomal Recessive

Test Available Sequencing Del/Dup Other
Centronuclear Myopathy Sequencing Panel$1690.00$840.00
Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene$990.00$690.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00

Centronuclear Myopathy, X-linked

Test Available Sequencing Del/Dup Other
Centronuclear Myopathy Sequencing Panel$1690.00$840.00
Centronuclear Myopathy, X-Linked via the MTM1 Gene$990.00$690.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00

Cerebral Palsy

Test Available Sequencing Del/Dup Other
Complex Hereditary Spastic Paraplegia Sequencing Panel$2340.00$1290.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel$2540.00$1290.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Nephrotic Syndrome via the KANK1 Gene$990.00

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$1690.00$1290.00
Charcot Marie Tooth Disease via the COX6A1 Gene$490.00$690.00
Charcot Marie Tooth Type 4J via the FIG4 Gene$990.00$690.00
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$990.00
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
Charcot-Marie-Tooth Type 4D via the NDRG1 Gene$990.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
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$990.00$690.00
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene$940.00$690.00
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
Laminopathies via the LMNA Gene$610.00$690.00
MFN2-Related Disorders via the MFN2 Gene$910.00$690.00
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$890.00$690.00

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
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene$680.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Interstitial Lung Disease Sequencing Panel$1770.00$1290.00
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel$1490.00$840.00

Congenital Fiber Type Disproportion

Test Available Sequencing Del/Dup Other
α-Actin (Skeletal Muscle Form)-Related Myopathy via the ACTA1 Gene$610.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
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
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myopathy, Congenital via the TPM3 Gene$610.00$690.00
Selenoprotein N, 1 via the SELENON/SEPN1 Gene$860.00$690.00

Congenital Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Fiber Type Disproportion Sequencing Panel$1690.00$840.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene$710.00$690.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Dystroglycanopathies via the POMK Gene$540.00$690.00
Dystroglycanopathy via the B3GALNT2 Gene$910.00$690.00
Dystroglycanopathy via the LARGE1/LARGE Gene$870.00$690.00
Integrin Alpha 7-Related Congenital Myopathy via the ITGA7 Gene$990.00$690.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Walker-Warburg Syndrome via the B3GNT1(B4GAT1) Gene$540.00$690.00
Walker-Warburg Syndrome via the Isoprenoid Synthase Domain Containing (ISPD) Gene$770.00$690.00
Walker-Warburg Syndrome via the TMEM5 Gene$610.00$690.00

Congenital Muscular Dystrophy, Merosin Deficient

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene$990.00$690.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene (Mexican Exon 55 Mutation)$250.00$690.00

Congenital Muscular Dystrophy-Dystroglycanopathy

Test Available Sequencing Del/Dup Other
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Dystroglycanopathies via the POMK Gene$540.00$690.00
Dystroglycanopathy via the B3GALNT2 Gene$910.00$690.00
Dystroglycanopathy via the DAG1 Gene$710.00$690.00
Dystroglycanopathy via the FKTN Gene$610.00$690.00
Dystroglycanopathy via the GMPPB Gene$610.00$690.00
Dystroglycanopathy via the LARGE1/LARGE Gene$870.00$690.00
Fukuyama Congenital Muscular Dystrophy via the FKTN Japanese Founder Mutation$250.00$690.00
Integrin Alpha 7-Related Congenital Myopathy via the ITGA7 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2I via the FKRP Gene$400.00$690.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Walker-Warburg Syndrome via the B3GNT1(B4GAT1) Gene$540.00$690.00
Walker-Warburg Syndrome via the Isoprenoid Synthase Domain Containing (ISPD) Gene$770.00$690.00
Walker-Warburg Syndrome via the POMGNT1 Gene$660.00$690.00
Walker-Warburg Syndrome via the POMT1 Gene$920.00$690.00
Walker-Warburg Syndrome via the POMT2 Gene$990.00$690.00
Walker-Warburg Syndrome via the TMEM5 Gene$610.00$690.00

Congenital Myasthenic Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myasthenic Syndrome Sequencing Panel$1690.00$1290.00
Congenital Myasthenic Syndrome via the CHRNE Gene$780.00$690.00
Congenital Myasthenic Syndrome via the COLQ Gene$930.00$690.00
Congenital Myasthenic Syndrome via the MUSK Gene$930.00$690.00
Congenital Myasthenic Syndrome via the SYT2 Gene$780.00
Congenital Myasthenic Syndrome With Episodic Apnea via the CHAT Gene$940.00$690.00
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via the CHRNA1 Gene$680.00$690.00
Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene$770.00$690.00
Congenital Myasthenic Syndromes via the CHRNB1 Gene$710.00$690.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Familial Limb Girdle Myasthenic Syndrome With Tubular Aggregates via the DPAGT1 Gene$750.00$690.00
Rapsyn-Related Disorders via the RAPSN Gene$610.00$690.00
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene$990.00$690.00

Congenital Myopathy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Compton-North Congenital Myopathy via the CNTN1 Gene$990.00$690.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel$1440.00$1290.00

Congenital Myopathy, multipleminicore

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
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

Congenital Myopathy, Myosin Storage

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Core Myopathy Sequencing Panel$1790.00$840.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$990.00$690.00

Cowchock Syndrome

Test Available Sequencing Del/Dup Other
AIFM1-Related Disorders via the AIFM1 Gene$990.00$690.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Dimethylglycine Dehydrogenase Deficiency

Test Available Sequencing Del/Dup Other
Dimethylglycine Dehydrogenase Deficiency via the DMGDH Gene$1590.00

Distal Hereditary Motor Neuonopathy

Test Available Sequencing Del/Dup Other
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene$940.00$690.00
Seipin-Related Disorders via the BSCL2 Gene$780.00$690.00

DOPA-Responsive Dystonia

Test Available Sequencing Del/Dup Other
Autosomal Domianant DOPA-Responsive Dystonia via the GCH1 Gene$680.00$690.00
Dystonia Sequencing Panel$2100.00$840.00
Parkinson Disease Sequencing Panel$1590.00$840.00

Duchenne Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dystrophinopathy via the DMD Gene$990.00$690.00

Dystonia

Test Available Sequencing Del/Dup Other
Dystonia Sequencing Panel$2100.00$840.00
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

Emery-Dreifuss muscular dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Emery-Dreifuss Muscular Dystrophy (EDMD1) via the EMD Gene$550.00$690.00
FHL1-Myopathies via the FHL1 Gene$680.00
Laminopathies via the LMNA Gene$610.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146$990.00$690.00

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

Epidermolysa Bullosa And Limb Girdle Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00
Epidermolysis Bullosa with Pyloric Atresia via the PLEC Gene$2420.00$690.00
Plectinopathy via the PLEC Gene$2420.00$690.00

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
Epilespy, Autosomal Dominant Lateral Temporal, via the LGI1 Gene$750.00$690.00
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$870.00$690.00
Pyridoxine 5'-Phosphate Oxidase Deficiency via the PNPO Gene$680.00$690.00
Pyridoxine-Dependent Epilepsy via the ALDH7A1 Gene$990.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Episodic Ataxia

Test Available Sequencing Del/Dup Other
Episodic Ataxia Type 1 or Hypomagnesemia via the KCNA1 Gene$250.00$690.00
Hypomagnesemia Sequencing Panel$1590.00$1290.00

Facioscapulohumeral Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1590.00$840.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Facioscapulohumeral Muscular Dystrophy 2 via the SMCHD1 Gene$990.00$690.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00

Frontotemporal Dementia

Test Available Sequencing Del/Dup Other
Alzheimer's Disease, Familial via the PSEN1 Gene$780.00$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
Dementia Sequencing Panel$1440.00$840.00
Frontotemporal Dementia via the GRN Gene$870.00
Frontotemporal Dementia via the MAPT Gene$990.00
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

Fukuyama Congenital Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Dystroglycanopathy via the FKTN Gene$610.00$690.00
Fukuyama Congenital Muscular Dystrophy via the FKTN Japanese Founder Mutation$250.00$690.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00

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$2340.00$1670.00

Glycine Encephalopathy

Test Available Sequencing Del/Dup Other
AMT-Related Glycine Encephalopathy via the AMT Gene$750.00$690.00
GLDC-Related Glycine Encephalopathy via the GLDC gene$1250.00$690.00

Glycogen Storage Disease

Test Available Sequencing Del/Dup Other
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Fanconi-Bickel Syndrome via the SLC2A2 Gene$750.00$690.00
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel$1890.00$1290.00
Glycogen Storage Disease Type 0 via the Glycogen Synthase 2 (GYS2) Gene$990.00$690.00
Glycogen Storage Disease Type Ia via the G6PC Gene$590.00$690.00
Glycogen Storage Disease Type Ib via the SLC37A4 (G6PT1) Gene$670.00$690.00
Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene$910.00$690.00
Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene, Exon 18 Deletion$490.00
Glycogen Storage Disease Type III via the AGL Gene$990.00$690.00
Glycogen Storage Disease Type IV via the GBE1 Gene$990.00$690.00
Glycogen Storage Disease Type IX via the PHKA1 Gene$990.00$690.00
Glycogen Storage Disease Type IX via the PHKA2 Gene$990.00$690.00
Glycogen Storage Disease Type IX via the PHKB Gene$990.00$690.00
Glycogen Storage Disease Type IX via the PHKG2 Gene$610.00$690.00
Glycogen Storage Disease Type VI via the PYGL Gene$990.00$690.00
Glycogen Storage Disease Type VII (Tarui Disease) via the PFKM Gene$990.00$690.00
Glycogen Storage Disease Type X via the PGAM2 Gene$490.00
Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Sequential Test$890.00$690.00
Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Tier 1$370.00$690.00
Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Tier 2$830.00$690.00
GYG1-Related Disorders via the GYG1 Gene$750.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Metabolic Hypoglycemia Sequencing Panel$1690.00$1290.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Hecht Syndrome

Test Available Sequencing Del/Dup Other
Distal Arthrogryposis Type 7 (Trismus-Pseudocamptodactyly Syndrome) via the MYH8 Gene$1620.00

Hyperkalemic Periodic Paralysis

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Primary Periodic Paralysis Sequencing Panel$1490.00$770.00
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene$990.00$690.00

Hypertrophic Cardiomyopathy

Test Available Sequencing Del/Dup Other
Caveolinopathy via the CAV3 Gene$440.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Dilated Cardiomyopathy via the NEXN Gene$990.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the CSRP3 Gene$540.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the PLN Gene$370.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the TPM1 Gene$680.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the VCL Gene$990.00$690.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the ACTC1 Gene$610.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the TNNI3 Gene$650.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the TNNT2 Gene$840.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Hypertrophic Cardiomyopathy via the MYBPC3 Gene$990.00$690.00
Hypertrophic Cardiomyopathy via the MYL2 Gene$580.00$690.00
Hypertrophic Cardiomyopathy via the MYL3 Gene$540.00$690.00
Hypertrophic Cardiomyopathy via the TNNC1 Gene$540.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
PRKAG2-Related Disorders via the PRKAG2 Gene$910.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Hypokalemic Periodic Paralysis

Test Available Sequencing Del/Dup Other
Primary Periodic Paralysis Sequencing Panel$1490.00$770.00

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$810.00$690.00

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (IBMPFD)

Test Available Sequencing Del/Dup Other
Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1590.00$840.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Valosin-Containing Protein-Related Disorders via the VCP Gene$990.00$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

Juvenile Primary Lateral Sclerosis

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

Leigh Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
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 (Nuclear Genes)$1980.00$730.00
Mitochondrial Complex I Deficiency via the NDUFS4 Gene$650.00
Mitochondrial Complex III Deficiency Sequencing Panel (Nuclear Genes)$1650.00
Mitochondrial Complex IV Deficiency Sequencing Panel (Nuclear Genes)$1710.00$690.00
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

Limb-Girdle Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1590.00$840.00
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E (LGMD1E) via the DNAJB6 Gene$770.00$690.00
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Caveolinopathy via the CAV3 Gene$440.00$690.00
Centronuclear Myopathy Sequencing Panel$1690.00$840.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via the SGCD Gene$650.00$690.00
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Dystroglycanopathy via the DAG1 Gene$710.00$690.00
Dystroglycanopathy via the GMPPB Gene$610.00$690.00
Epidermolysis Bullosa with Pyloric Atresia via the PLEC Gene$2420.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Laminopathies via the LMNA Gene$610.00$690.00
Limb Girdle Muscular Dystrophy Type 1F via the TNPO3 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2A via the CAPN3 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via the DYSF Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2I via the FKRP Gene$400.00$690.00
Limb Girdle Muscular Dystrophy Type 2S (LGMD2S) via the TRAPPC11 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2W (LGMD2W) via The LIMS2 Gene$680.00$690.00
Limb Girdle Muscular Dystrophy, Type 2C (LGMD2C) via the SGCG Gene$610.00$690.00
Limb Girdle Muscular Dystrophy, Type 2D (LGMD2D) via the SGCA Gene$560.00$690.00
Limb Girdle Muscular Dystrophy, Type 2E (LGMD2E) via the SGCB Gene$460.00$690.00
Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy via the TTN Gene (exons 307 - 312)$1220.00$690.00
Limb Girdle Muscular Dystrophy, Type 2L (LGMD2L) and Distal Miyoshi Myopathy (MMD3) via the ANO5 Gene$1090.00$690.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myotilinopathy via the MYOT Gene$680.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Plectinopathy via the PLEC Gene$2420.00$690.00
Telethoninopathy via the TCAP Gene$440.00$690.00
Walker-Warburg Syndrome via the Isoprenoid Synthase Domain Containing (ISPD) Gene$770.00$690.00
Walker-Warburg Syndrome via the POMT2 Gene$990.00$690.00

Limb-Girdle Muscular Dystrophy, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1590.00$840.00
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E (LGMD1E) via the DNAJB6 Gene$770.00$690.00
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Caveolinopathy via the CAV3 Gene$440.00$690.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Laminopathies via the LMNA Gene$610.00$690.00
Limb Girdle Muscular Dystrophy Type 1F via the TNPO3 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 1G via the HNRNPDL Gene$750.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myotilinopathy via the MYOT Gene$680.00$690.00

Limb-Girdle Muscular Dystrophy, Autosomal Recessive

Test Available Sequencing Del/Dup Other
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Centronuclear Myopathy Sequencing Panel$1690.00$840.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via the SGCD Gene$650.00$690.00
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Dystroglycanopathy via the GMPPB Gene$610.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Limb Girdle Muscular Dystrophy Type 2A via the CAPN3 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via the DYSF Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2I via the FKRP Gene$400.00$690.00
Limb Girdle Muscular Dystrophy Type 2S (LGMD2S) via the TRAPPC11 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy, Type 2C (LGMD2C) via the SGCG Gene$610.00$690.00
Limb Girdle Muscular Dystrophy, Type 2D (LGMD2D) via the SGCA Gene$560.00$690.00
Limb Girdle Muscular Dystrophy, Type 2E (LGMD2E) via the SGCB Gene$460.00$690.00
Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy via the TTN Gene (exons 307 - 312)$1220.00$690.00
Limb Girdle Muscular Dystrophy, Type 2L (LGMD2L) and Distal Miyoshi Myopathy (MMD3) via the ANO5 Gene$1090.00$690.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Telethoninopathy via the TCAP Gene$440.00$690.00
Walker-Warburg Syndrome via the Isoprenoid Synthase Domain Containing (ISPD) Gene$770.00$690.00

Limb-Girdle Myasthenic Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myasthenic Syndrome Sequencing Panel$1690.00$1290.00
Congenital Myasthenic Syndrome via the GFPT1 Gene$990.00$690.00
Familial Limb Girdle Myasthenia Syndrome via the DOK7 Gene$560.00$690.00
Familial Limb Girdle Myasthenic Syndrome via the AGRN Gene$990.00$690.00

Malignant Hyperthermia

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Malignant Hyperthermia Susceptibility Sequencing Panel$1590.00$770.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00

Mandibuloacral Dysplasia

Test Available Sequencing Del/Dup Other
Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via the ZMPSTE24 Gene$710.00$690.00

Marinesco-Sjogren Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Cataracts Sequencing Panel$1840.00$840.00
Marinesco-Sjogren Syndrome via the SIL1 Gene$750.00$690.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00

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$780.00$690.00

Merosin Deficient Congenital Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene$990.00$690.00
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene (Mexican Exon 55 Mutation)$250.00$690.00

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$2400.00$Call for Quote
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
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$780.00$690.00
SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene$750.00$690.00
SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene$780.00$690.00
TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene$710.00$690.00

Mitochondrial Phosphate Carrier Deficiency

Test Available Sequencing Del/Dup Other
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Mitochondrial Phosphate Carrier Deficiency via the SLC25A3 Gene$710.00$690.00

Miyoshi Myopathy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via the DYSF Gene$990.00$690.00
Limb Girdle Muscular Dystrophy, Type 2L (LGMD2L) and Distal Miyoshi Myopathy (MMD3) via the ANO5 Gene$1090.00$690.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00

Muscle Eye Brain Disease

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Walker-Warburg Syndrome via the POMGNT1 Gene$660.00$690.00

Muscular dystrophy-dystroglycanopathy

Test Available Sequencing Del/Dup Other
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Walker-Warburg Syndrome via the B3GNT1(B4GAT1) Gene$540.00$690.00
Walker-Warburg Syndrome via the Isoprenoid Synthase Domain Containing (ISPD) Gene$770.00$690.00
Walker-Warburg Syndrome via the POMGNT1 Gene$660.00$690.00
Walker-Warburg Syndrome via the POMT1 Gene$920.00$690.00
Walker-Warburg Syndrome via the POMT2 Gene$990.00$690.00
Walker-Warburg Syndrome via the TMEM5 Gene$610.00$690.00

Myoclonic Dystonia

Test Available Sequencing Del/Dup Other
Dystonia Sequencing Panel$2100.00$840.00
Myoclonus-Dystonia Syndrome via the SGCE Gene$750.00$690.00

Myofibrillar Myopathy

Test Available Sequencing Del/Dup Other
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myofibrillar Myopathy via the CRYAB Gene$440.00$690.00
Myofibrillar Myopathy via the DES Gene$680.00$690.00
Myofibrillar Myopathy via the FLNC Gene$990.00$690.00
Myofibrillar Myopathy via the LDB3 (ZASP) Gene$940.00$690.00
Myofibrillar Myopathy, Childhood Onset via the BAG3 Gene$680.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Myoglobinuria

Test Available Sequencing Del/Dup Other
Disorders of Fatty Acid Oxidation Sequencing Panel$1440.00$1290.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene$1080.00$690.00
Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene, Exons 18-19 Deletion Test$240.00

Myopathy

Test Available Sequencing Del/Dup Other
Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1590.00$840.00
Comprehensive Fetal and Neonatal Loss Panel
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Compton-North Congenital Myopathy via the CNTN1 Gene$990.00$690.00
Congenital Fiber Type Disproportion Sequencing Panel$1690.00$840.00
Congenital Myasthenic Syndrome Sequencing Panel$1690.00$1290.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Core Myopathy Sequencing Panel$1790.00$840.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Distal Myopathy 2 via the MATR3 Gene$840.00$690.00
Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) via the MEGF10 Gene$990.00$690.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel$1440.00$1290.00
Fetal Concerns Sequencing Panel$1590.00
FHL1-Myopathies via the FHL1 Gene$680.00
GLE1-Related Disorders via the GLE1 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via the DYSF Gene$990.00$690.00
Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy via the TTN Gene (exons 307 - 312)$1220.00$690.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myopathy with Lactic Acidosis via the ISCU Gene$610.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Tubular Aggregate Myopathy via the STIM1 Gene$840.00$690.00
Welander Distal Myopathy via the TIA1 Gene$940.00

Myopathy, Centronuclear

Test Available Sequencing Del/Dup Other
Centronuclear Myopathy Sequencing Panel$1690.00$840.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Dynamin-2 Related Disorders via the DNM2 Gene$990.00$690.00

Myopathy, Congenital, Compton-North

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Compton-North Congenital Myopathy via the CNTN1 Gene$990.00$690.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel$1440.00$1290.00

Myopathy, Distal

Test Available Sequencing Del/Dup Other
Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1590.00$840.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Fiber Type Disproportion Sequencing Panel$1690.00$840.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Distal Myopathy 2 via the MATR3 Gene$840.00$690.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy via the TTN Gene (exons 307 - 312)$1220.00$690.00

Myopathy, Nonaka

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Inclusion Body Myopathy-2 (Autosomal Recessive) and Nonaka Myopathy via the GNE Gene$810.00$690.00

Myopathy, Welander distal

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Welander Distal Myopathy via the TIA1 Gene$940.00

Myopathy, X-linked

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
FHL1-Myopathies via the FHL1 Gene$680.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Myotilinopathy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myotilinopathy via the MYOT Gene$680.00$690.00

Myotonia Congenita

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Myotonia Congenita via the CLCN1 Gene$990.00

Native American myopathy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myopathy (Native American Myopathy) via the STAC3 Gene$780.00$690.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Malignant Hyperthermia Susceptibility Sequencing Panel$1590.00$770.00

Nemaline Myopathy

Test Available Sequencing Del/Dup Other
α-Actin (Skeletal Muscle Form)-Related Myopathy via the ACTA1 Gene$610.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Fetal and Neonatal Loss Panel
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
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel$1440.00$1290.00
Fetal Concerns Sequencing Panel$1590.00
GLE1-Related Disorders via the GLE1 Gene$990.00$690.00
Myopathy, Congenital via the TPM3 Gene$610.00$690.00
Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene$1990.00$690.00
Nemaline Myopathy 10 via the LMOD3 Gene$990.00
Nemaline Myopathy 5 (Amish Nemaline Myopathy) via the TNNT1 Gene$780.00$690.00
Nemaline Myopathy 7 via the CFL2 Gene$540.00$690.00
Nemaline Myopathy 9 via the KLHL41 Gene$750.00$690.00
Nemaline Myopathy NEB Triplicate Repeat Region, Exons 82-105$1440.00
Nemaline Myopathy Sequencing Panel$2290.00$840.00
Nemaline Myopathy via the KLHL40 Gene$750.00$690.00
Nemaline Myopathy via the NEB Exon 55 Deletion$250.00
Nemaline Myopathy With Cores (NEM6) via the KBTBD13 Gene$580.00$690.00
Tropomyosin 2-Related Disorders via the TPM2 Gene$610.00$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$750.00$690.00
Dynactin-Related Disorders via the DCTN1 Gene$990.00$690.00
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene$940.00$690.00
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$780.00$690.00

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$840.00$690.00

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$1690.00$1290.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
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$990.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Neutral Lipid Storage Disease With Myopathy

Test Available Sequencing Del/Dup Other
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Neutral Lipid Storage Disease with Myopathy via the PNPLA2 Gene$820.00$690.00

Nonaka Myopathy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Inclusion Body Myopathy-2 (Autosomal Recessive) and Nonaka Myopathy via the GNE Gene$810.00$690.00

Paramyotonia Congenita Of Von Eulenburg

Test Available Sequencing Del/Dup Other
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene$990.00$690.00

Parkinson Disease

Test Available Sequencing Del/Dup Other
Parkinson Disease Sequencing Panel$1590.00$840.00
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$780.00$690.00
Parkinson's Disease, Juvenile via the PARK2 Gene$840.00$690.00
PLA2G6-Associated Neurodegeneration, Infantile Neuroaxonal Dystrophy and Parkinson Disease via the PLA2G6 Gene$990.00$690.00

Paroxysmal Choreoathetosis

Test Available Sequencing Del/Dup Other
Dystonia Sequencing Panel$2100.00$840.00
Paroxysmal Nonkinesigenic Dyskinesia (DYT8) via the PNKD Gene$710.00$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$2940.00$1670.00

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$2240.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Perrault Syndrome Type 1 via the HSD17B4 Gene$990.00$690.00
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

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$990.00$690.00

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

Potassium Aggravated Myotonia

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene$990.00$690.00

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
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene$710.00$690.00
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
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$780.00$690.00

Rigid Spine Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Core Myopathy Sequencing Panel$1790.00$840.00
Selenoprotein N, 1 via the SELENON/SEPN1 Gene$860.00$690.00

Rippling Muscle Disease

Test Available Sequencing Del/Dup Other
Caveolinopathy via the CAV3 Gene$440.00$690.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00

Salla Disease

Test Available Sequencing Del/Dup Other
Sialic Acid Storage Disorder (Salla Disease) via the SLC17A5 Gene$840.00

Sengers syndrome

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Sengers Syndrome via the AGK Gene$990.00$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

Sialic Acid Storage Disease

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
Fetal Concerns Sequencing Panel$1590.00
Sialic Acid Storage Disorder (Salla Disease) via the SLC17A5 Gene$840.00

Spastic Paraplegia

Test Available Sequencing Del/Dup Other
Complex Hereditary Spastic Paraplegia Sequencing Panel$2340.00$1290.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel$2540.00$1290.00
KIF1A-Related Disorders via the KIF1A Gene$990.00
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$2390.00$730.00
Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 gene$990.00$690.00
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$2090.00$840.00
REEP1-Related Disorders via the REEP1 Gene$610.00$690.00
Seipin-Related Disorders via the BSCL2 Gene$780.00$690.00
Spastic Paraplegia 10 via the KIF5A Gene$1590.00$690.00
Spastic Paraplegia 11 via the SPG11 Gene$1590.00
Spastic Paraplegia 12 via the RTN2 Gene$1590.00
Spastic Paraplegia 13 via the HSPD1 Gene$840.00
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$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$1590.00$690.00
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 8 via the WASHC5/KIAA0196 Gene$1470.00
TFG-Related Disorders via the TFG Gene$910.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Spheroid Body Myopathy

Test Available Sequencing Del/Dup Other
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00

Spinal Muscular Atrophy

Test Available Sequencing Del/Dup Other
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$990.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene$1090.00$690.00
Spinal Muscular Atrophy with Respiratory Distress Type 1 via the IGHMBP2 Gene$910.00$690.00
Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset and Amyotrophic Lateral Sclerosis-8 via the VAPB Gene$580.00$690.00
TRPV4-related Disorders via the TRPV4 Gene$890.00$690.00

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
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
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$780.00

Supranuclear Palsy, Progressive

Test Available Sequencing Del/Dup Other
Frontotemporal Dementia via the MAPT Gene$990.00

Troyer Syndrome

Test Available Sequencing Del/Dup Other
Complex Hereditary Spastic Paraplegia Sequencing Panel$2340.00$1290.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel$2540.00$1290.00
Spastic Paraplegia 20 (Troyer Syndrome) via the SPG20 Gene$1590.00

Ullrich Congenital Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Type VI Collagenopathy via the COL6A1 Gene$990.00$690.00
Type VI Collagenopathy via the COL6A2 Gene$990.00$690.00
Type VI Collagenopathy via the COL6A3 Gene$990.00$690.00
Type VI-Related Collagenopathy Sequencing Panel$1490.00$840.00
Type VI-Related Collagenopathy via the COL12A1 Gene$990.00$690.00

Walker-Warburg Congenital Muscular Dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Walker-Warburg Syndrome via the Glycosyltransferase-Like Domain-Containing Protein 2 (POMGNT2) Gene$650.00$690.00
Walker-Warburg Syndrome via the POMT1 Gene$920.00$690.00
Walker-Warburg Syndrome via the POMT2 Gene$990.00$690.00
Walker-Warburg Syndrome via the TMEM5 Gene$610.00$690.00

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