Test Descriptions Found:

290

Intellectual Disability

CMA

Adenylosuccinate Lyase Deficiency

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

Alazami Syndrome

Test Available Sequencing Del/Dup Other
Primordial Dwarfism via the LARP7 Gene$1060.00

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-Thalassemia Myelodysplasia Syndrome

Test Available Sequencing Del/Dup Other
Alpha-Thalassemia X-linked Intellectual Disability Syndrome via the ATRX Gene$2270.00$690.00

Aminoacylase 1 Deficiency

Test Available Sequencing Del/Dup Other
Aminoacylase-1 Deficiency via the ACY1 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

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

Angelman Syndrome

Test Available Sequencing Del/Dup Other
Angelman Syndrome by MS-MLPA$540.00
Angelman Syndrome via the UBE3A Gene$810.00$690.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel$1990.00$1290.00

Aniridia, Cerebellar Ataxia, And Mental Retardation

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

Arts Syndrome

Test Available Sequencing Del/Dup Other
PRPS1-Related Disorders$680.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

ATR-X Syndrome

Test Available Sequencing Del/Dup Other
Alpha-Thalassemia X-linked Intellectual Disability Syndrome via the ATRX Gene$2270.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

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

Borjeson-Forssman-Lehmann Syndrome

Test Available Sequencing Del/Dup Other
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel$2290.00$1290.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

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

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$990.00$690.00

CK syndrome

Test Available Sequencing Del/Dup Other
NSDHL-Related Disorders via the NSDHL Gene$610.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Coffin-Lowry Syndrome

Test Available Sequencing Del/Dup Other
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Coffin-Siris syndrome

Test Available Sequencing Del/Dup Other
Coffin-Siris Syndrome Sequencing Panel$1590.00$840.00
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel$2290.00$1290.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00

Cohen Syndrome

Test Available Sequencing Del/Dup Other
Cohen Syndrome via the VPS13B (COH1) Gene$990.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00

Cornelia de Lange syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel$2290.00$1290.00
Cornelia de Lange Syndrome Sequencing Panel$1790.00$840.00
Cornelia de Lange Syndrome via the HDAC8 Gene$810.00
Cornelia de Lange Syndrome via the NIPBL Gene$990.00$690.00
Cornelia de Lange Syndrome via the RAD21 Gene$990.00
Cornelia de Lange Syndrome via the SMC1A Gene$990.00$690.00
Cornelia de Lange Syndrome via the SMC3 Gene$990.00$690.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

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

DOOR syndrome

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

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
Christianson Type X-Linked Mental Retardation via the SLC9A6 Gene$870.00$690.00
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$2340.00$1670.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel$1990.00$1290.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Fragile X Syndrome

Test Available Sequencing Del/Dup Other
Fragile X Syndrome or Premature Ovarian Failure (POF1) via FMR1 CGG Repeat Expansion$690.00$390.00
Fragile X Syndrome via the FMR1 Gene$1130.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$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

Goldberg-Shprintzen Megacolon Syndrome

Test Available Sequencing Del/Dup Other
Goldberg-Shprintzen megacolon Syndrome via the KIAA1279 (KIF1BP) Gene$810.00$690.00

Hartsfield syndrome

Test Available Sequencing Del/Dup Other
Craniosynostosis and Related Disorders Sequencing Panel$1540.00$770.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
FGFR1-Related Disorders via the FGFR1 Gene$990.00$690.00

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

Ichthyosis Follicularis Atrichia Photophobia Syndrome

Test Available Sequencing Del/Dup Other
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

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$2340.00$1670.00
Syndromic Intellectual Disability via the PURA Gene$680.00

KBG Syndrome

Test Available Sequencing Del/Dup Other
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel$2290.00$1290.00
Cornelia de Lange Syndrome Sequencing Panel$1790.00$840.00
Cornelia de Lange Syndrome via the ANKRD11 Gene$840.00$690.00

Kleefstra Syndrome

Test Available Sequencing Del/Dup Other
Kleefstra Syndrome via the EHMT1 Gene$1340.00$690.00

Kohlschutter-Tonz syndrome

Test Available Sequencing Del/Dup Other
Amelogenesis Imperfecta Sequencing Panel$1740.00$1290.00
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$840.00$690.00

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

Macrocephaly/Autism Syndrome

Test Available Sequencing Del/Dup Other
PTEN Hamartoma Tumor Syndrome via the PTEN Gene$810.00$690.00

Mental Retardation

Test Available Sequencing Del/Dup Other
2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene$990.00$690.00
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$990.00
Chromosome 5q14.3 Deletion Syndrome via the MEF2C Gene$990.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
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$1990.00$1670.00
HCFC1-Related Disorders via the HCFC1 Gene$990.00
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$1590.00$690.00
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$2190.00$1670.00
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$2340.00$1670.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel$1990.00$1290.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00
X-linked Lissencephaly-2 via the ARX Gene$650.00$690.00

Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance

Test Available Sequencing Del/Dup Other
Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance via the OPHN1 Gene$1190.00$690.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Mental Retardation, Autosomal Dominant

Test Available Sequencing Del/Dup Other
KIF1A-Related Disorders via the KIF1A Gene$990.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
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$2340.00$1670.00

Mental Retardation, X linked

Test Available Sequencing Del/Dup Other
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

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$870.00$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$2340.00$1670.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel$1990.00$1290.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Muenke Syndrome

Test Available Sequencing Del/Dup Other
Craniosynostosis and Related Disorders Sequencing Panel$1540.00$770.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
FGFR3-Related Disorders via the FGFR3 Gene$970.00$690.00

Ogden Syndrome

Test Available Sequencing Del/Dup Other
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00
X-linked Lenz Microphthalmia Syndrome and Lethal Ogden Syndrome via the NAA10 Gene$680.00

Opitz G/BBB Syndrome

Test Available Sequencing Del/Dup Other
Opitz G/BBB Syndrome Type 1 via the MID1 Gene$870.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Partial Agenesis of the Corpus Callosum

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

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
Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene$990.00$690.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Peroxisome biogenesis disorder

Test Available Sequencing Del/Dup Other
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene$990.00$690.00
Comprehensive Fetal and Neonatal Loss Panel
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Fetal Concerns Sequencing Panel$1590.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX1 Gene$990.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX10 Gene$610.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX11B Gene$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX12 Gene$390.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX13 Gene$580.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene$710.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene$810.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX19 Gene$650.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX2 Gene$490.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX26 Gene$610.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene$810.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene$940.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX6 Gene$970.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene$780.00$690.00

Pettigrew Syndrome

Test Available Sequencing Del/Dup Other
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Phelan-Mcdermid Syndrome

Test Available Sequencing Del/Dup Other
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
Phelan-Mcdermid Syndrome, 22q13 Deletion Syndrome, or Autism Spectrum Disorder via the SHANK3 Gene$1590.00$690.00

Pitt-Hopkins Syndrome

Test Available Sequencing Del/Dup Other
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
Pitt-Hopkins Syndrome via the TCF4 Gene$1100.00$690.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel$1990.00$1290.00

Pitt-Hopkins-like Syndrome 2

Test Available Sequencing Del/Dup Other
Autosomal-Recessive Intellectual Disability via the NRXN1 Gene$990.00$690.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1490.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel$1990.00$1290.00

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$1890.00$840.00

Potocki-Lupski syndrome

Test Available Sequencing Del/Dup Other
Smith-Magenis and Potocki-Lupski syndromes via the RAI1 Gene$1020.00$690.00

Renpenning Syndrome 1

Test Available Sequencing Del/Dup Other
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00
Renpenning Syndrome via the PQBP1 Gene$680.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

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$2340.00$1670.00
Rett Syndrome via the MECP2 Gene$750.00$690.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel$1990.00$1290.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Rhizomelic Chondrodysplasia Punctata

Test Available Sequencing Del/Dup Other
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene$780.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 2 via the GNPAT Gene$990.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 3 via the AGPS Gene$990.00$690.00

Ritscher-Schinzel Syndrome 2

Test Available Sequencing Del/Dup Other
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Scaphocephaly, Maxillary Retrusion, And Mental Retardation

Test Available Sequencing Del/Dup Other
FGFR2-Related Disorders via the FGFR2 Gene$990.00$690.00

Seckel Syndrome

Test Available Sequencing Del/Dup Other
CENPJ-Related Disorders via the CENPJ Gene$1060.00$690.00
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via the ATR Gene$2450.00$690.00

SESAME 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
Hypomagnesemia Sequencing Panel$1590.00$1290.00

Siderius X-Linked Mental Retardation Syndrome

Test Available Sequencing Del/Dup Other
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Singleton-Merten Syndrome 1

Test Available Sequencing Del/Dup Other
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene$990.00

Smith-Magenis Syndrome

Test Available Sequencing Del/Dup Other
Smith-Magenis and Potocki-Lupski syndromes via the RAI1 Gene$1020.00$690.00

Snyder Robinson Syndrome

Test Available Sequencing Del/Dup Other
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Snyder-Robinson Syndrome, Spermine Synthase Deficiency via the SMS Gene$870.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Sotos Syndrome

Test Available Sequencing Del/Dup Other
Sotos Syndrome via the NSD1 Gene$990.00$690.00

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

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

TARP Syndrome

Test Available Sequencing Del/Dup Other
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Temple-Baraitser Syndrome

Test Available Sequencing Del/Dup Other
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome via the KCNH1 Gene$1100.00

Tuberous Sclerosis

Test Available Sequencing Del/Dup Other
Interstitial Lung Disease Sequencing Panel$1770.00$1290.00
Renal Cancer Sequencing Panel$2590.00$1290.00
Tuberous Sclerosis Complex Sequencing and Deletion/Duplication Panel$2490.00
Tuberous Sclerosis Complex via the TSC1 Gene$990.00$540.00
Tuberous Sclerosis Complex via the TSC2 Gene$990.00$540.00

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

VACTERL Association With Hydrocephalus

Test Available Sequencing Del/Dup Other
PTEN Hamartoma Tumor Syndrome via the PTEN Gene$810.00$690.00

Weaver Syndrome

Test Available Sequencing Del/Dup Other
Weaver Syndrome via the EZH2 Gene$1090.00$690.00

Zimmermann-Laband Syndrome

Test Available Sequencing Del/Dup Other
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome via the KCNH1 Gene$1100.00

ZNF711-Related X-Linked Mental Retardation

Test Available Sequencing Del/Dup Other
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Nephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via the KANK2 Gene$990.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel$2340.00$1670.00

All of our prices are as listed. No strings attached.