Test Descriptions Found:

880

Skeletal, Connective Tissue, Ectodermal and Skin

CMA

3M Syndrome

Test Available Sequencing Del/Dup Other
3-M Syndrome via the CCDC8 Gene$580.00
3-M Syndrome via the CUL7 Gene$990.00$690.00

Aarskog Syndrome

Test Available Sequencing Del/Dup Other
Aarskog-Scott Syndrome via the FGD1 Gene$940.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Achondrogenesis

Test Available Sequencing Del/Dup Other
Achondrogenesis Type 1A via the TRIP11 Gene$1650.00$690.00
Achondrogenesis Type 1B (ACG1B) via the SLC26A2 Gene$650.00$690.00
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Achondroplasia

Test Available Sequencing Del/Dup Other
Achondroplasia via the FGFR3 Gene, Exon 10$250.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
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

Acrodysostosis

Test Available Sequencing Del/Dup Other
Carney Complex (CNC) via the PRKAR1A Gene$750.00$690.00

Acrofacial Dysostosis

Test Available Sequencing Del/Dup Other
Acrofacial Dysostosis 1, Nagar Type via the SF3B4 Gene$780.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel$1440.00

Acromesomelic Dysplasia Hunter Thompson Type

Test Available Sequencing Del/Dup Other
GDF5-related Disorders via the GDF5 Gene$520.00$690.00

Adams-Oliver Syndrome

Test Available Sequencing Del/Dup Other
Adams-Oliver Syndrome via the DOCK6 Gene$990.00

ADULT Syndrome

Test Available Sequencing Del/Dup Other
TP63-Related Disorders via the TP63 Gene$870.00$690.00

Alagille Syndrome

Test Available Sequencing Del/Dup Other
Alagille Syndrome Sequencing Panel$1440.00$730.00
Alagille Syndrome-1 via the JAG1 Gene$990.00$690.00
Cholestasis Sequencing Panel$1590.00$1290.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
NOTCH2-Related Disorders via the NOTCH2 Gene$990.00$690.00
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel$1490.00$840.00

Alazami Syndrome

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

Albinism, Oculocutaneous

Test Available Sequencing Del/Dup Other
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 7 (OCAVII) via the C10orf11 Gene$610.00

Alpha-1-Antitrypsin Deficiency

Test Available Sequencing Del/Dup Other
Alpha-1 Antitrypsin Deficiency via the SERPINA1 Gene$680.00$690.00
Cholestasis Sequencing Panel$1590.00$1290.00

Amelogenesis Imperfecta

Test Available Sequencing Del/Dup Other
Amelogenesis Imperfecta Sequencing Panel$1740.00$1290.00
Amelogenesis Imperfecta via the AMELX Gene$440.00$690.00
Amelogenesis Imperfecta via the C4orf26 Gene$490.00
Amelogenesis Imperfecta via the DLX3 Gene$490.00$690.00
Amelogenesis Imperfecta via the ENAM Gene$910.00$690.00
Amelogenesis Imperfecta via the FAM83H Gene$840.00$690.00
Amelogenesis Imperfecta via the KLK4 Gene$610.00$690.00
Amelogenesis Imperfecta via the MMP20 Gene$780.00$690.00
Amelogenesis Imperfecta via the WDR72 Gene$1220.00$690.00
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene$840.00$690.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00

Anauxetic Dysplasia

Test Available Sequencing Del/Dup Other
Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene$250.00$690.00

Antley-Bixler Syndrome

Test Available Sequencing Del/Dup Other
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

Apert Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Craniosynostosis and Related Disorders Sequencing Panel$1540.00$770.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
FGFR2-Related Disorders via the FGFR2 Gene$990.00$690.00

Arterial Tortuosity Syndrome

Test Available Sequencing Del/Dup Other
Arterial tortuosity syndrome (ATS) via the SLC2A10 gene$750.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00

Arthrogryposis Renal Dysfunction Cholestasis

Test Available Sequencing Del/Dup Other
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene$990.00$690.00
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene$990.00$690.00
Cholestasis Sequencing Panel$1590.00$1290.00

Arthrogryposis, Distal

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 Gene$990.00$690.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel$1890.00$840.00
Distal Arthrogryposis 1B via the MYBPC1 Gene$990.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNI2 Gene$610.00$690.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNT3 Gene$860.00$690.00
Distal Arthrogryposis Sequencing Panel$2690.00$840.00
Distal Arthrogryposis, Autosomal Recessive, Type 5D (DA5D) via the ECEL1 Gene$990.00$690.00
Distal Arthrogryposis/Gordon Syndrome via the PIEZO2 Gene$990.00
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$990.00$690.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel$2390.00$730.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00
Tropomyosin 2-Related Disorders via the TPM2 Gene$610.00$690.00

Arthrogryposis, Lethal

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
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
Fetal Concerns Sequencing Panel$1590.00
GLE1-Related Disorders via the GLE1 Gene$990.00$690.00

Asphyxiating Thoracic Dystrophy

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Atelosteogenesis

Test Available Sequencing Del/Dup Other
Atelosteogenesis type 2 (AO2) via the SLC26A2 Gene$650.00$690.00
FLNB-Related Disorders via the FLNB Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Avascular Necrosis Of Femoral Head, Primary

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Baller-Gerold Syndrome

Test Available Sequencing Del/Dup Other
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Rothmund Thomson Syndrome via the RECQL4 Gene$990.00$690.00

Benign Recurrent Intrahepatic Cholestasis

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
Intrahepatic Cholestasis via the ABCB11 Gene$990.00$690.00
Intrahepatic Cholestasis via the ATP8B1 Gene$990.00$690.00

Bent bone dysplasia 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
FGFR2-Related Disorders via the FGFR2 Gene$990.00$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

Bile Acid Synthesis Defect, Congenital

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
Congenital Bile Acid Synthesis Defect Type 1 via the HSD3B7 Gene$990.00$690.00
Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene$840.00$690.00
Spastic Paraplegia 5A via the CYP7B1 Gene$710.00

Birt-Hogg-Dube

Test Available Sequencing Del/Dup Other
Birt-Hogg-Dube Syndrome via the FLCN Gene$750.00$690.00

Blau Syndrome

Test Available Sequencing Del/Dup Other
Pediatric Granulomatous Arthritis via the NOD2 Gene$990.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Blomstrand Chondrodysplasia

Test Available Sequencing Del/Dup Other
Hypoparathyroidism Sequencing Panel$1690.00$1290.00

Bloom Syndrome

Test Available Sequencing Del/Dup Other
Bloom's Syndrome via the BLM Gene$990.00$690.00
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Colorectal Cancer Sequencing And Deletion/Duplication Panel$1190.00

Boomerang Dysplasia

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

Brachydactyly

Test Available Sequencing Del/Dup Other
GDF5-related Disorders via the GDF5 Gene$520.00$690.00
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via the ROR2 Gene$810.00$690.00
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene$440.00

Brachyolmia

Test Available Sequencing Del/Dup Other
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00
TRPV4-related Disorders via the TRPV4 Gene$890.00$690.00

Brittle Cornea Syndrome

Test Available Sequencing Del/Dup Other
Brittle Cornea Syndrome Sequencing Panel$1680.00
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00

Brody Myopathy

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

Bruck Syndrome

Test Available Sequencing Del/Dup Other
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel$2390.00$730.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00
Osteogenesis Imperfecta-Bruck Syndrome Type II via the PLOD2 Gene$1190.00

Bullous Erythroderma Ichthyosiformis Congenita Of Brocq

Test Available Sequencing Del/Dup Other
Congenital Ichthyosis and Related Disorders Sequencing Panel$1990.00$840.00
Epidermolytic Hyperkeratosis via the KRT1 Gene$910.00$690.00

Caffey Disease

Test Available Sequencing Del/Dup Other
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel$2390.00$730.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00
Osteogenesis Imperfecta via the COL1A1 Gene$990.00

Camptodactyly, Tall Stature, And Hearing Loss 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
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Camptomelic Dysplasia

Test Available Sequencing Del/Dup Other
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
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Camptosynpolydactyly, Complex

Test Available Sequencing Del/Dup Other
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via the BHLHA9 Gene$490.00

Camurati-Engelmann Disease

Test Available Sequencing Del/Dup Other
Camurati-Engelmann Disease (CED) via the TGFB1 Gene$690.00$690.00

Cantu Syndrome

Test Available Sequencing Del/Dup Other
Cantu Syndrome via the ABCC9 Gene$990.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Cardiac Valvular Dysplasia

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$690.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Carney Complex

Test Available Sequencing Del/Dup Other
Carney Complex (CNC) via the PRKAR1A Gene$750.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Arthrogryposis Sequencing Panel$2690.00$840.00
Tropomyosin 2-Related Disorders via the TPM2 Gene$610.00$690.00

Cherubism

Test Available Sequencing Del/Dup Other
Cherubism via the SH3BP2 Gene$840.00

Cholestasis, Progressive Familial Intrahepatic

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
Intrahepatic Cholestasis via the ABCB11 Gene$990.00$690.00
Intrahepatic Cholestasis via the ABCB4 Gene$990.00$690.00
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel$1490.00$840.00

Chondrodysplasia Punctata

Test Available Sequencing Del/Dup Other
Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via the ARSE Gene$790.00$690.00
Conradi-Hunermann syndrome via the EBP Gene$560.00$690.00

Chondrodysplasia with Joint Dislocations

Test Available Sequencing Del/Dup Other
Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via the IMPAD1 Gene$750.00

Chondroectodermal Dysplasia

Test Available Sequencing Del/Dup Other
Ellis-van Creveld Syndrome (EVC) Sequencing Panel$1490.00$730.00
Ellis-van Creveld Syndrome via the EVC Gene$990.00$690.00
Ellis-van Creveld Syndrome via the EVC2 Gene$990.00$690.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome

Test Available Sequencing Del/Dup Other
CANDLE Syndrome via the PSMB8 Gene$650.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Chronic Infantile Neurological, Cutaneous And Articular Syndrome

Test Available Sequencing Del/Dup Other
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$990.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Citrin Deficiency

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
Hyperammonemia Sequencing Panel$1690.00$1670.00
SLC25A13-Related Disorders via the SLC25A13 Gene$990.00$690.00
Urea Cycle Disorders Sequencing Panel$1490.00$840.00

Citrullinemia

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
Citrullinemia, Type I via the ASS1 Gene$840.00$690.00
Hyperammonemia Sequencing Panel$1690.00$1670.00
SLC25A13-Related Disorders via the SLC25A13 Gene$990.00$690.00
Urea Cycle Disorders Sequencing Panel$1490.00$840.00

Cleidocranial Dysostosis

Test Available Sequencing Del/Dup Other
Cleidocranial Dysplasia (CCD) via the RUNX2 Gene$860.00$690.00

Coffin-Lowry Syndrome

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

Congenital Contractural Arachnodactyly

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 Gene$990.00$690.00
Distal Arthrogryposis 1B via the MYBPC1 Gene$990.00
Distal Arthrogryposis Sequencing Panel$2690.00$840.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNI2 Gene$610.00$690.00
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNT3 Gene$860.00$690.00
Distal Arthrogryposis Sequencing Panel$2690.00$840.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$990.00$690.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel$2390.00$730.00
Tropomyosin 2-Related Disorders via the TPM2 Gene$610.00$690.00

Congenital Generalized Lipodystrophy

Test Available Sequencing Del/Dup Other
Congenital Generalized Lipodystrophy (CGL) Sequencing Panel$1090.00$730.00
Congenital Generalized Lipodystrophy (CGL) via the AGPAT2 Gene$640.00
Seipin-Related Disorders via the BSCL2 Gene$780.00$690.00

Congenital Ichthyosis

Test Available Sequencing Del/Dup Other
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene$2670.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOXE3 Gene$940.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the NIPAL4 Gene$610.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the PNPLA1 Gene$750.00$690.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via the TGM1 Gene$970.00$690.00
Congenital Ichthyosis and Related Disorders Sequencing Panel$1990.00$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 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
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Coxa Plana

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Cranioectodermal Dysplasia

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Cranioectodermal Dysplasia 1 (CED1) via the IFT122 Gene$990.00$690.00
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene$990.00$690.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Craniofrontonasal Dysplasia

Test Available Sequencing Del/Dup Other
Craniofrontonasal Syndrome via the EFNB1 Gene$580.00

Craniosynostosis

Test Available Sequencing Del/Dup Other
Craniosynostosis and Related Disorders Sequencing Panel$1540.00$770.00
Craniosynostosis via the MSX2 Gene$490.00$690.00
Craniosynostosis via the TCF12 Gene$990.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Saethre-Chotzen Syndrome Via the TWIST1 Gene$440.00

Craniosynostosis And Dental Anomalies

Test Available Sequencing Del/Dup Other
Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via the IL11RA Gene$870.00$690.00

Crouzon 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
FGFR2-Related Disorders via the FGFR2 Gene$990.00$690.00
FGFR3-Related Disorders via the FGFR3 Gene$970.00$690.00

Crouzon Syndrome With Acanthosis Nigricans

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

Cushing's Symphalangism

Test Available Sequencing Del/Dup Other
GDF5-related Disorders via the GDF5 Gene$520.00$690.00
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene$440.00

Cutaneous Telangiectasia and Cancer Syndrome, Familial

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

Cutis Laxa

Test Available Sequencing Del/Dup Other
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via the ALDH18A1 Gene$1020.00$690.00
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via the ATP6V0A2 Gene$1250.00$690.00
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel$1690.00$1290.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Cutis Laxa via the FBLN5 Gene$840.00$690.00
Cutis Laxa via the PYCR1 Gene$680.00$690.00
Cutis Laxa, Type 1B (ARCL1B) via the EFEMP2 Gene$750.00$690.00
Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene$990.00$690.00

Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities

Test Available Sequencing Del/Dup Other
Cutis Laxa via the LTBP4 Gene$1440.00$690.00

Czech Dysplasia Metatarsal Type

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

De Sanctis-Cacchione Syndrome

Test Available Sequencing Del/Dup Other
Cockayne Syndrome via the ERCC6 Gene$990.00$690.00

Dent Disease

Test Available Sequencing Del/Dup Other
Dent Disease Sequencing Panel$1440.00$690.00
Dent Disease via the CLCN5 Gene$840.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via the OCRL Gene$990.00$690.00

Denticles

Test Available Sequencing Del/Dup Other
Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD) via the DSPP Gene$680.00

Dentinogenesis Imperfecta

Test Available Sequencing Del/Dup Other
Dentinogenesis Imperfecta (DGI) and Dentin Dysplasia (DD) via the DSPP Gene$680.00

Diaphanospondylodysostosis

Test Available Sequencing Del/Dup Other
Diaphanospondylodysostosis via the BMPER Gene$970.00

Diastrophic Dysplasia

Test Available Sequencing Del/Dup Other
Diastrophic dysplasia (DTD) via the SLC26A2 Gene$650.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Digital arthropathy-brachydactyly, Familial

Test Available Sequencing Del/Dup Other
TRPV4-related Disorders via the TRPV4 Gene$890.00$690.00

Disseminated Superficial Actinic Porokeratosis

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

Duane-Radial Ray Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel$1890.00$840.00
Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome via the SALL4 Gene$730.00$690.00

Dwarfism

Test Available Sequencing Del/Dup Other
TRPV4-related Disorders via the TRPV4 Gene$890.00$690.00

Dyskeratosis Congenita

Test Available Sequencing Del/Dup Other
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel$1680.00$840.00
Dyskeratosis Congenita (DC) via the TERT Gene$990.00$690.00
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel$1490.00$840.00

Dyskeratosis Congenita, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel$1680.00$840.00
Dyskeratosis Congenita (DC) and Revesz Syndrome via the TINF2 Gene$710.00$690.00
Dyskeratosis Congenita (DC) via the TERT Gene$990.00$690.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Sequencing Panel$1690.00$840.00

Dyskeratosis Congenita, Autosomal Recessive

Test Available Sequencing Del/Dup Other
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel$1680.00$840.00
Dyskeratosis Congenita (DC) via the NHP2 Gene$520.00$690.00
Dyskeratosis Congenita (DC) via the NOP10 Gene$370.00$690.00
Dyskeratosis Congenita (DC) via the WRAP53 Gene$790.00$690.00

Dyskeratosis Congenita, X-Linked

Test Available Sequencing Del/Dup Other
Dyskeratosis Congenita (DC) and Hoyeraal-Hreidarsson Syndrome via the DKC1 Gene$1020.00$690.00
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel$1680.00$840.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Ectodermal Dysplasia, Skin Fragility Syndrome

Test Available Sequencing Del/Dup Other
Ectodermal Dysplasia/skin Fragility Syndrome via the PKP1 Gene$840.00$690.00
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome

Test Available Sequencing Del/Dup Other
TP63-Related Disorders via the TP63 Gene$870.00$690.00

Ehlers-Danlos Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Arthrogryposis Sequencing Panel$2690.00$840.00
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00
Ehlers-Danlos syndrome via the TNXB Gene$1990.00$690.00
Ehlers-Danlos syndrome via the TNXB Gene, Exon 35$250.00$690.00
Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via the FKBP14 Gene$580.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A1 Gene$990.00$690.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A2 Gene$990.00$690.00
Ehlers-Danlos Syndrome, Kyphoscoliotic Form via the PLOD1 Gene$990.00$690.00
Ehlers-Danlos Syndrome, Type IV via the COL3A1 Gene$990.00$690.00
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel$1590.00$840.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$990.00$690.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel$2390.00$730.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00
Osteogenesis Imperfecta via the COL1A1 Gene$990.00
Osteogenesis Imperfecta via the COL1A2 Gene$990.00

Ehlers-Danlos-Like Syndrome

Test Available Sequencing Del/Dup Other
Ehlers-Danlos syndrome via the TNXB Gene$1990.00$690.00
Ehlers-Danlos syndrome via the TNXB Gene, Exon 35$250.00$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

Epidermolysis Bullosa

Test Available Sequencing Del/Dup Other
Amelogenesis Imperfecta Sequencing Panel$1740.00$1290.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene$990.00$690.00
Dystrophic Epidermolysis Bullosa (DEB) via the COL7A1 Gene$3040.00$690.00
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00
Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene$780.00
Epidermolysis Bullosa Simplex (EBS) via the KRT5 Gene$780.00$690.00
Epidermolysis Bullosa with Pyloric Atresia via the ITGA6 Gene$1250.00$690.00
Epidermolysis Bullosa with Pyloric Atresia via the ITGB4 Gene$990.00$690.00
Epidermolysis Bullosa with Pyloric Atresia via the PLEC Gene$2420.00$690.00
Junctional Epidermolysis Bullosa via the COL17A1 Gene$2110.00$690.00
Junctional Epidermolysis Bullosa via the LAMA3 Gene$1690.00$690.00
Junctional Epidermolysis Bullosa via the LAMB3 Gene$1230.00$690.00
Junctional Epidermolysis Bullosa via the LAMC2 Gene$1220.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Plectinopathy via the PLEC Gene$2420.00$690.00

Erythrokeratodermia Variabilis Et Progressiva

Test Available Sequencing Del/Dup Other
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene$490.00$690.00

Erythropoietic Protoporphyria

Test Available Sequencing Del/Dup Other
Chronic/Cutaneous Porphyria Sequencing Panel$1390.00$840.00
Erythropoietic Protoporphyria via the FECH Gene$840.00$690.00
Porphyria Sequencing Panel$1390.00$840.00
X-linked Sideroblastic Anemia via the ALAS2 Gene$1020.00$690.00

Exostoses

Test Available Sequencing Del/Dup Other
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel$1390.00$730.00
Hereditary Multiple Osteochondromas (HMO) via the EXT1 Gene$840.00$690.00
Hereditary Multiple Osteochondromas (HMO) via the EXT2 Gene$870.00$690.00

Familial Amyloid Nephropathy

Test Available Sequencing Del/Dup Other
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$990.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Familial Cold Autoinflammatory Syndrome

Test Available Sequencing Del/Dup Other
Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 Gene$990.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Familial Cold Urticaria

Test Available Sequencing Del/Dup Other
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$990.00$690.00

Familial Hemiplegic Migraine

Test Available Sequencing Del/Dup Other
Familial Hemiplegic Migraine 1 (FHM1) via the CACNA1A Gene$1290.00
Familial Hemiplegic Migraine 2 (FHM2) via the ATP1A2 Gene$990.00$690.00
Familial Hemiplegic Migraine Sequencing Panel$1640.00$770.00

Familial Mediterranean Fever

Test Available Sequencing Del/Dup Other
Familial Mediterranean Fever (Renal Amyloidosis) via the MEFV Gene$910.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Familial Porphyria Cutanea Tarda

Test Available Sequencing Del/Dup Other
Chronic/Cutaneous Porphyria Sequencing Panel$1390.00$840.00
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic Porphyria via the UROD Gene$680.00$690.00
Porphyria Sequencing Panel$1390.00$840.00

Fetal Akinesia Deformation Sequence

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
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
Familial Limb Girdle Myasthenia Syndrome via the DOK7 Gene$560.00$690.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel$1440.00$1290.00
Fetal Concerns Sequencing Panel$1590.00
Multiple Pterygium Syndrome via the CHRNG Gene$750.00$690.00
Rapsyn-Related Disorders via the RAPSN Gene$610.00$690.00

FG Syndrome

Test Available Sequencing Del/Dup Other
Lujan Syndrome, FG Syndrome Type 1 and Ohdo Syndrome via the MED12 Gene$1850.00$690.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$690.00

Fibrochondrogenesis

Test Available Sequencing Del/Dup Other
Stickler Syndrome Sequencing Panel$1840.00$840.00
Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 Gene$990.00$690.00

Fibrodysplasia Ossificans Progressiva

Test Available Sequencing Del/Dup Other
Fibrodysplasia Ossificans progressiva (FOP) via the ACVR1 Gene$840.00$690.00

Fibular Hypoplasia And Complex Brachydactyly

Test Available Sequencing Del/Dup Other
GDF5-related Disorders via the GDF5 Gene$520.00$690.00

Floating-Harbor Syndrome

Test Available Sequencing Del/Dup Other
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Floating-Harbor Syndrome via the SRCAP Gene$990.00$690.00
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel$1490.00$770.00
Rubinstein-Taybi Syndrome via the CREBBP Gene$990.00$690.00

Focal Dermal Hypoplasia

Test Available Sequencing Del/Dup Other
Focal Dermal Hypoplasia (FDH) via the PORCN Gene$870.00$690.00

Frank Ter Haar Syndrome

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

Frontometaphyseal Dysplasia

Test Available Sequencing Del/Dup Other
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$690.00

Frontonasal Dysplasia

Test Available Sequencing Del/Dup Other
Frontonasal Dysplasia (Frontorhiny) via the ALX3 Gene$610.00

GAPO Syndrome

Test Available Sequencing Del/Dup Other
GAPO Syndrome via the ANTXR1 Gene$1100.00

Geroderma Osteodysplasticum

Test Available Sequencing Del/Dup Other
Geroderma Osteodysplasticum (GO) via the GORAB Gene$680.00$690.00

Gnathodiaphyseal Dysplasia

Test Available Sequencing Del/Dup Other
Gnathodiaphyseal Dysplasia via the ANO5 Gene$1090.00$690.00

Gracile Bone Dysplasia

Test Available Sequencing Del/Dup Other
Kenny-Caffey Syndrome Sequencing Panel$1390.00$730.00
Kenny-Caffey Syndrome Type 2 via the FAM111A Gene$680.00$690.00

Grebe Syndrome

Test Available Sequencing Del/Dup Other
GDF5-related Disorders via the GDF5 Gene$520.00$690.00

Greenberg Dysplasia

Test Available Sequencing Del/Dup Other
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via the LBR 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$2690.00$1290.00
GLI3-Related Disorders via the GLI3 Gene$1020.00$690.00

Hajdu-Cheney Syndrome

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
NOTCH2-Related Disorders via the NOTCH2 Gene$990.00$690.00

Harlequin Ichthyosis

Test Available Sequencing Del/Dup Other
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene$2670.00$690.00
Congenital Ichthyosis and Related Disorders Sequencing Panel$1990.00$840.00

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

Hay-Wells Syndrome

Test Available Sequencing Del/Dup Other
TP63-Related Disorders via the TP63 Gene$870.00$690.00

Holt-Oram Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Holt-Oram Syndrome (HOS) via the TBX5 Gene$710.00$690.00

Hoyeraal Hreidarsson Syndrome

Test Available Sequencing Del/Dup Other
Dyskeratosis Congenita (DC) and Hoyeraal-Hreidarsson Syndrome via the DKC1 Gene$1020.00$690.00

Hypercholanemia, Familial

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00

Hyperparathyroidism, Neonatal Severe Primary

Test Available Sequencing Del/Dup Other
Hypercalcemic and Hypocalcemic Disorders via the CASR Gene$870.00$690.00

Hyperphosphatasemia With Bone Disease

Test Available Sequencing Del/Dup Other
Juvenile Paget Disease via the TNFRSF11B Gene$560.00$690.00

Hypertension and Brachydactyly Syndrome

Test Available Sequencing Del/Dup Other
Hypertension and Brachydactyly Syndrome via the PDE3A Gene$1190.00

Hypochondroplasia

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
Hypochondroplasia via the FGFR3 Gene$560.00$690.00
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel$1770.00$690.00
Hypophosphatasia via the ALPL Gene$870.00$690.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel$2390.00$730.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00

Hypokalemic Periodic Paralysis

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

Hypophosphatemic Bone Disease

Test Available Sequencing Del/Dup Other
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel$1770.00$690.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00

Hypophosphatemic Rickets, X-Linked Dominant

Test Available Sequencing Del/Dup Other
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel$1770.00$690.00
Hypophosphatemia, X-Linked, via the PHEX Gene$1190.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00

Ichthyosiform Erythroderma

Test Available Sequencing Del/Dup Other
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOX12B Gene$990.00$690.00
Congenital Ichthyosis and Related Disorders Sequencing Panel$1990.00$840.00

Ichthyosis

Test Available Sequencing Del/Dup Other
Congenital Ichthyosis and Related Disorders Sequencing Panel$1990.00$840.00
Epidermolytic Hyperkeratosis via the KRT1 Gene$910.00$690.00
Ichthyosis bullosa, Siemens via the KRT2 Gene$780.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Palmoplantar Keratoderma, Epidermolytic via the KRT9 Gene$910.00$690.00

Ichthyosis Lamellar

Test Available Sequencing Del/Dup Other
Autosomal Recessive Congenital Ichthyosis (ARCI) via the CYP4F22 Gene$940.00$690.00
Congenital Ichthyosis and Related Disorders Sequencing Panel$1990.00$840.00

Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
Congenital Ichthyosis and Related Disorders Sequencing Panel$1990.00$840.00

Immunodeficiency

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Cone-Rod Dystrophy via the UNC119 Gene$610.00$690.00
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via the GATA2 Gene$680.00$690.00
Primary Immunodeficiency via the PIK3CD gene$1310.00

Inherited Systemic Hyaline

Test Available Sequencing Del/Dup Other
Hyaline Fibromatosis Syndrome via the ANTXR2 Gene$1060.00

Interleukin 36 Receptor Antagonist Deficiency

Test Available Sequencing Del/Dup Other
DITRA via the IL36RN Gene$990.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital

Test Available Sequencing Del/Dup Other
Congenital Interstitial Lung Disease with Nephrotic Syndrome and Epidermolysis Bullosa (ILNEB) via the ITGA3 Gene$990.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00

Ivic Syndrome

Test Available Sequencing Del/Dup Other
Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome via the SALL4 Gene$730.00$690.00

Jackson-Weiss 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
FGFR2-Related Disorders via the FGFR2 Gene$990.00$690.00

Kenny-Caffey Syndrome

Test Available Sequencing Del/Dup Other
Hypomagnesemia Sequencing Panel$1590.00$1290.00
Hypoparathyroidism Sequencing Panel$1690.00$1290.00
Kenny-Caffey Syndrome Sequencing Panel$1390.00$730.00
Kenny-Caffey Syndrome Type 1 via the TBCE Gene$990.00$690.00
Kenny-Caffey Syndrome Type 2 via the FAM111A Gene$680.00$690.00

Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma

Test Available Sequencing Del/Dup Other
Congenital Ichthyosis and Related Disorders Sequencing Panel$1990.00$840.00
KLICK Syndrome via the POMP Gene$680.00

Keratosis Palmoplantaris Striata

Test Available Sequencing Del/Dup Other
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene$990.00$690.00

Kindler's Syndrome

Test Available Sequencing Del/Dup Other
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00
Kindler Syndrome via the FERMT1 Gene$1020.00$690.00

Klippel-Feil Syndrome, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Klippel-Feil Syndrome via the GDF6 Gene$490.00$690.00

Klippel-Feil syndrome, Autosomal Recessive

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Klippel-Feil Syndrome via the MEOX1 Gene$610.00

Kniest Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Kohlschutter-Tonz syndrome

Test Available Sequencing Del/Dup Other
Amelogenesis Imperfecta Sequencing Panel$1740.00$1290.00
Early Infantile Epileptic Encephalopathy Sequencing Panel$1890.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1690.00$1670.00
Kohlschutter-Tonz syndrome (KTS) via the ROGDI Gene$840.00$690.00

Lacrimoauriculodentodigital 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
FGFR2-Related Disorders via the FGFR2 Gene$990.00$690.00
FGFR3-Related Disorders via the FGFR3 Gene$970.00$690.00

Langer Mesomelic Dysplasia Syndrome

Test Available Sequencing Del/Dup Other
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene$520.00$690.00

Laron-Type Isolated Somatotropin Defect

Test Available Sequencing Del/Dup Other
Laron Syndrome / Pituitary Dwarfism II (Growth Hormone Insensitivity) via the GHR Gene$840.00$690.00

Larsen Syndrome

Test Available Sequencing Del/Dup Other
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00
FLNB-Related Disorders via the FLNB Gene$990.00$690.00

Laryngoonychocutaneous Syndrome

Test Available Sequencing Del/Dup Other
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00
Junctional Epidermolysis Bullosa via the LAMA3 Gene$1690.00$690.00

Leri Weill Dyschondrosteosis

Test Available Sequencing Del/Dup Other
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene$520.00$690.00

Lethal Multiple Pterygium Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
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 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
Multiple Pterygium Syndrome via the CHRNG Gene$750.00$690.00
Nemaline Myopathy Sequencing Panel$2290.00$840.00
Nemaline Myopathy via the KLHL40 Gene$750.00$690.00

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
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
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
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-Mammary Syndrome

Test Available Sequencing Del/Dup Other
TP63-Related Disorders via the TP63 Gene$870.00$690.00

Loeys-Dietz syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel$1590.00$840.00
Loeys-Dietz Syndrome 4 via the TGFB2 Gene$710.00$690.00
Loeys-Dietz Syndrome Sequencing Panel$1490.00$840.00
Loeys-Dietz Syndrome via the TGFBR1 Gene$710.00$690.00
Loeys-Dietz Syndrome via the TGFBR2 Gene$710.00$690.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the SMAD3 gene$780.00$690.00

Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis

Test Available Sequencing Del/Dup Other
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via the RIN2 Gene$990.00$690.00

Majeed Syndrome

Test Available Sequencing Del/Dup Other
Majeed Syndrome via the LPIN2 Gene$990.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

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

Mandibulofacial dysostosis, Guion-Almeida type

Test Available Sequencing Del/Dup Other
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 Gene$990.00
Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel$1440.00

Marden-Walker Syndrome

Test Available Sequencing Del/Dup Other
Distal Arthrogryposis Sequencing Panel$2690.00$840.00

Marfan Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel$1590.00$840.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Marfan Syndrome via the FBN1 Gene$990.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Marshall Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Stickler Syndrome Sequencing Panel$1840.00$840.00
Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 Gene$990.00$690.00

Meier-Gorlin Syndrome

Test Available Sequencing Del/Dup Other
Meier-Gorlin Syndrome Sequencing Panel$1440.00$840.00
Meier-Gorlin Syndrome via the CDC6 Gene$910.00$690.00
Meier-Gorlin Syndrome via the CDT1 Gene$780.00$690.00
Meier-Gorlin Syndrome via the ORC1 Gene$990.00$690.00
Meier-Gorlin Syndrome via the ORC4 Gene$810.00$690.00
Meier-Gorlin Syndrome via the ORC6 Gene$650.00$690.00

Melanoma

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Melanoma Predisposition via the CDK4 Gene$680.00$690.00
Melanoma Predisposition via the CDKN2A Gene$540.00$690.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
PTEN Hamartoma Tumor Syndrome via the PTEN Gene$810.00$690.00
Waardenburg Syndrome Type IIA via the MITF Gene$780.00$690.00

Melanoma-Pancreatic Cancer Syndrome

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Melanoma Predisposition via the CDKN2A Gene$540.00$690.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00

Melnick-Needles Syndrome

Test Available Sequencing Del/Dup Other
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$690.00

Metachondromatosis

Test Available Sequencing Del/Dup Other
PTPN11-Related Disorders via the PTPN11 Gene$940.00$690.00

Metaphyseal Chondrodysplasia

Test Available Sequencing Del/Dup Other
Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene$250.00$690.00
Hypoparathyroidism Sequencing Panel$1690.00$1290.00
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via the COL10A1 Gene$610.00$690.00

Metaphyseal Dysplasia

Test Available Sequencing Del/Dup Other
Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene$250.00$690.00

Miller Syndrome

Test Available Sequencing Del/Dup Other
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Miller Syndrome via the DHODH Gene$750.00
Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel$1440.00

Mucopolysaccharidosis

Test Available Sequencing Del/Dup Other
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
GM1 Gangliodisosis and Mucopolysaccharidosis Type IVB / Morquio Type B via the GLB1 Gene$870.00$690.00
Mucopolysaccharidosis Type I via the IDUA Gene$870.00$690.00
Mucopolysaccharidosis Type II via the IDS Gene$710.00
Mucopolysaccharidosis Type III Sequencing Panel$1540.00$840.00
Mucopolysaccharidosis Type IIIA / Sanfilippo Syndrome A via the SGSH Gene$690.00$690.00
Mucopolysaccharidosis Type IIIB / Sanfilippo Syndrome B via the NAGLU Gene$780.00$690.00
Mucopolysaccharidosis Type IIIC / Sanfilippo Syndrome C via the HGSNAT Gene$940.00$690.00
Mucopolysaccharidosis Type IIID / Sanfilippo Syndrome D via the GNS Gene$870.00$690.00
Mucopolysaccharidosis Type IX via the HYAL1 Gene$610.00$690.00
Mucopolysaccharidosis Type VI / Maroteaux-Lamy Syndrome via the ARSB Gene$680.00$690.00
Mucopolysaccharidosis Type VII / Sly Syndrome via the GUSB Gene$780.00$690.00
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

Multiple Epiphyseal Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
COMP-Related Disorders via the COMP Gene$990.00$690.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Multiple Epiphyseal Dysplasia via the COL9A3 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia via the MATN3 Gene$770.00$690.00
Multiple Epiphyseal Dysplasia, Recessive (EDM4/rMED) via the SLC26A2 Gene$650.00$690.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Multiple Fibrofolliculomas

Test Available Sequencing Del/Dup Other
Birt-Hogg-Dube Syndrome via the FLCN Gene$750.00$690.00

Multiple Synostoses Syndrome

Test Available Sequencing Del/Dup Other
GDF5-related Disorders via the GDF5 Gene$520.00$690.00
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene$440.00

Nager Syndrome

Test Available Sequencing Del/Dup Other
Acrofacial Dysostosis 1, Nagar Type via the SF3B4 Gene$780.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel$1440.00

Nail Disorder, Nonsyndromic Congenital

Test Available Sequencing Del/Dup Other
Dystrophic Epidermolysis Bullosa (DEB) via the COL7A1 Gene$3040.00$690.00

Nail-Patella Syndrome

Test Available Sequencing Del/Dup Other
Glaucoma Sequencing Panel$1940.00$840.00
Nail-Patella Syndrome via the LMX1B Gene$680.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00

Naxos Disease

Test Available Sequencing Del/Dup Other
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene$750.00$690.00

Netherton Syndrome

Test Available Sequencing Del/Dup Other
Hyper IgE Syndrome Sequencing Panel$1540.00$770.00
Netherton Syndrome via the SPINK5 Gene$990.00$690.00

Neurofibromatosis

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel$1490.00$1290.00
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel$1440.00$960.00
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene$990.00$540.00
Neurofibromatosis Type 2 via the NF2 Gene$910.00$690.00

Neuronal Intestinal Pseudoobstruction

Test Available Sequencing Del/Dup Other
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$690.00

Oculocutaneous Albinism

Test Available Sequencing Del/Dup Other
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene$680.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene$990.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Known Intragenic Gross Deletion$490.00
Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 Gene$750.00
Oculocutaneous Albinism Type 4 (OCAIV) via the SLC45A2 Gene$780.00
Oculocutaneous Albinism Type 7 (OCAVII) via the C10orf11 Gene$610.00

Odontoonychodermal Dysplasia

Test Available Sequencing Del/Dup Other
Ectodermal Dysplasia Sequencing Panel$1440.00$840.00
Ectodermal Dysplasia via the WNT10A Gene$580.00$690.00

Oral-Facial-Digital Syndrome

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
OFD1-Related Disorders via the OFD1 Gene$990.00$690.00

Orofacial Cleft

Test Available Sequencing Del/Dup Other
IRF6-Related Disorders via the IRF6 Gene$670.00$690.00

Orofaciodigital Syndrome

Test Available Sequencing Del/Dup Other
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Osteitis Deformans

Test Available Sequencing Del/Dup Other
Paget Disease of Bone (PDB) Sanger Sequencing Panel$1600.00$730.00
Paget Disease of Bone via the SQSTM1 Gene$810.00$690.00
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene$790.00$690.00

Osteoarthritis With Mild Chondrodysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Osteodysplasia

Test Available Sequencing Del/Dup Other
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Sequencing Panel$990.00
TREM2-Related Disorders via the TREM2 Gene$580.00

Osteogenesis Imperfecta

Test Available Sequencing Del/Dup Other
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel$2390.00$730.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00
Osteogenesis Imperfecta via the BMP1 Gene$1130.00
Osteogenesis Imperfecta via the COL1A1 Gene$990.00
Osteogenesis Imperfecta via the COL1A2 Gene$990.00
Osteogenesis Imperfecta via the CRTAP Gene$710.00
Osteogenesis Imperfecta via the FKBP10 Gene$840.00
Osteogenesis Imperfecta via the IFITM5 Gene$440.00
Osteogenesis Imperfecta via the P3H1 / LEPRE1 Gene$870.00
Osteogenesis Imperfecta via the SERPINF1 Gene$680.00
Osteogenesis Imperfecta via the SERPINH1 Gene$650.00
Osteogenesis Imperfecta via the SP7 Gene$610.00
Osteogenesis Imperfecta via the TMEM38B Gene$650.00
Osteogenesis Imperfecta via the WNT1 Gene$580.00

Osteoglophonic Dysplasia

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

Osteopetrosis

Test Available Sequencing Del/Dup Other
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel$2390.00$730.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00
Osteopetrosis via the CLCN7 Gene$1250.00$690.00
Osteopetrosis via the OSTM1 Gene$610.00
Osteopetrosis via the SNX10 Gene$650.00
Osteopetrosis via the TCIRG1 Gene$1100.00
Osteopetrosis via the TNFSF11 Gene$540.00
Paget Disease of Bone (PDB) Sanger Sequencing Panel$1600.00$730.00
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene$790.00$690.00

Osteopetrosis With Renal Tubular Acidosis

Test Available Sequencing Del/Dup Other
Distal Renal Tubular Acidosis Sequencing Panel$1440.00$840.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Osteopetrosis via the CA2 Gene$810.00$690.00

Osteoporosis

Test Available Sequencing Del/Dup Other
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Osteogenesis Imperfecta via the COL1A1 Gene$990.00

Oto-Palato-Digital Syndrome

Test Available Sequencing Del/Dup Other
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$690.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Otospondylomegaepiphyseal Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene$990.00$690.00

Pallister-Hall Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
GLI3-Related Disorders via the GLI3 Gene$1020.00$690.00

Papillon-Lefevre Syndrome

Test Available Sequencing Del/Dup Other
Papillon-Lefevre Syndrome (PLS) via the CTSC Gene$770.00$690.00

Parietal Foramina

Test Available Sequencing Del/Dup Other
Craniosynostosis via the MSX2 Gene$490.00$690.00

Parietal Foramina, with Cleidocranial Dysplasia

Test Available Sequencing Del/Dup Other
Craniosynostosis via the MSX2 Gene$490.00$690.00

Partial Albinism

Test Available Sequencing Del/Dup Other
Piebaldism and Familial Gastrointestinal Stromal Tumors (GISTs) via the KIT Gene$990.00$690.00
Waardenburg Syndrome Type IID via the SNAI2 Gene$540.00$690.00

Peeling Skin Syndrome, Acral Type

Test Available Sequencing Del/Dup Other
Peeling Skin Syndrome via the TGM5 Gene$870.00$690.00

Pelger-Huet Anomaly

Test Available Sequencing Del/Dup Other
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via the LBR Gene$870.00$690.00

Periodic Fever

Test Available Sequencing Del/Dup Other
Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene$780.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Periventricular Heterotopia

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1890.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1690.00$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

Pfeiffer 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
FGFR2-Related Disorders via the FGFR2 Gene$990.00$690.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Pituitary Adenoma, Growth Hormone-Secreting

Test Available Sequencing Del/Dup Other
Familial Isolated Pituitary Adenoma via the AIP Gene$680.00$690.00

Pityriasis rubra pilaris

Test Available Sequencing Del/Dup Other
Familial Pityriasis Rubra Pilaris (PRP) via the CARD14 Gene$990.00$690.00

Platyspondylic Lethal Skeletal Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Test Available Sequencing Del/Dup Other
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via the FAM111B Gene$810.00

Polydactyly, Postaxial

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
GLI3-Related Disorders via the GLI3 Gene$1020.00$690.00

Polydactyly, Preaxial

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
GLI3-Related Disorders via the GLI3 Gene$1020.00$690.00

Polyostotic Osteolytic Dysplasia

Test Available Sequencing Del/Dup Other
Paget Disease of Bone (PDB) Sanger Sequencing Panel$1600.00$730.00
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene$790.00$690.00

Progressive Intrahepatic Cholestasis

Test Available Sequencing Del/Dup Other
Cholestasis Sequencing Panel$1590.00$1290.00
Intrahepatic Cholestasis via the ATP8B1 Gene$990.00$690.00
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel$1490.00$840.00

Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome

Test Available Sequencing Del/Dup Other
COMP-Related Disorders via the COMP Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

Test Available Sequencing Del/Dup Other
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Rapadilino Syndrome

Test Available Sequencing Del/Dup Other
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Rothmund Thomson Syndrome via the RECQL4 Gene$990.00$690.00

Rapp-Hodgkin Ectodermal Dysplasia Syndrome

Test Available Sequencing Del/Dup Other
TP63-Related Disorders via the TP63 Gene$870.00$690.00

Restrictive Dermopathy

Test Available Sequencing Del/Dup Other
Laminopathies via the LMNA Gene$610.00$690.00
Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via the ZMPSTE24 Gene$710.00$690.00

Restrictive Dermopathy, Lethal

Test Available Sequencing Del/Dup Other
Laminopathies via the LMNA Gene$610.00$690.00
Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via the ZMPSTE24 Gene$710.00$690.00

Revesz Syndrome

Test Available Sequencing Del/Dup Other
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel$1680.00$840.00
Dyskeratosis Congenita (DC) and Revesz Syndrome via the TINF2 Gene$710.00$690.00

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

Roberts Syndrome

Test Available Sequencing Del/Dup Other
Roberts Syndrome via the ESCO2 Gene$830.00$690.00

Robinow Syndrome

Test Available Sequencing Del/Dup Other
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via the ROR2 Gene$810.00$690.00

Robinow-Sorauf Syndrome

Test Available Sequencing Del/Dup Other
Saethre-Chotzen Syndrome Via the TWIST1 Gene$440.00

Rothmund-Thomson Syndrome

Test Available Sequencing Del/Dup Other
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Rothmund Thomson Syndrome via the RECQL4 Gene$990.00$690.00

Rubinstein-Taybi Syndrome

Test Available Sequencing Del/Dup Other
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel$1490.00$770.00
Rubinstein-Taybi Syndrome via the CREBBP Gene$990.00$690.00
Rubinstein-Taybi Syndrome via the EP300 Gene$990.00$690.00

Saethre-Chotzen 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
FGFR2-Related Disorders via the FGFR2 Gene$990.00$690.00
Saethre-Chotzen Syndrome Via the TWIST1 Gene$440.00

Scaphocephaly, Maxillary Retrusion, And Mental Retardation

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

Schimke Immunoosseous Dysplasia

Test Available Sequencing Del/Dup Other
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Schimke Immunoosseous Dysplasia via the SMARCAL1 Gene$990.00$690.00

Schopf-Schulz-Passarge Syndrome

Test Available Sequencing Del/Dup Other
Ectodermal Dysplasia Sequencing Panel$1440.00$840.00
Ectodermal Dysplasia via the WNT10A Gene$580.00$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

Severe Congenital Neutropenia

Test Available Sequencing Del/Dup Other
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00
Severe Congenital Neutropenia (Dursun Syndrome) via the G6PC3 Gene$610.00$690.00
Severe Congenital Neutropenia (Kostmann Disease) via the HAX1 gene$560.00$690.00
Severe Congenital Neutropenia and Cyclic Neutropenia via the ELANE Gene$560.00$690.00
Severe Congenital Neutropenia Sequencing Panel$1440.00$840.00
Severe Congenital Neutropenia via the GFI1 gene$670.00$690.00
Severe Congenital Neutropenia via the VPS45 Gene$970.00
Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via the WAS Gene$710.00$690.00

Short Rib-Polydactyly Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene$990.00$690.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Short Stature, Idiopathic

Test Available Sequencing Del/Dup Other
Laron Syndrome / Pituitary Dwarfism II (Growth Hormone Insensitivity) via the GHR Gene$840.00$690.00
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene$520.00$690.00
Short Stature with or without Partial Isolated Growth Hormone Deficiency via the GHSR Gene$540.00$690.00

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis

Test Available Sequencing Del/Dup Other
Primordial Dwarfism via the POC1A Gene$780.00

Short-Rib Thoracic Dysplasia

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00
Short-Rib-Polydactyly Syndrome via the DYNC2H1 Gene$990.00

Shwachman Syndrome

Test Available Sequencing Del/Dup Other
Shwachman-Diamond Syndrome via the SBDS Gene$440.00$690.00

Sjogren-Larsson Syndrome

Test Available Sequencing Del/Dup Other
Sjogren-Larsson Syndrome via the ALDH3A2 Gene$750.00

Skin Fragility Woolly Hair Syndrome

Test Available Sequencing Del/Dup Other
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene$990.00$690.00
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00

Skin/Hair/Eye Pigmentation, Variation In,

Test Available Sequencing Del/Dup Other
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene$680.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene$990.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Known Intragenic Gross Deletion$490.00
Oculocutaneous Albinism Type 6 (OCAVI) via the SLC24A5 Gene$750.00

Small Patella Syndrome

Test Available Sequencing Del/Dup Other
Small Patella Syndrome via the TBX4 Gene$680.00$690.00

Sotos Syndrome

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

Split-Hand/Foot Malformation

Test Available Sequencing Del/Dup Other
TP63-Related Disorders via the TP63 Gene$870.00$690.00

Spondylocarpotarsal Synostosis Syndrome

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

Spondylocostal Dysostosis

Test Available Sequencing Del/Dup Other
Spondylocostal Dysostosis and Spondylothoracic Dysostosis via the MESP2 Gene$540.00$690.00
Spondylocostal Dysostosis Sequencing Panel$1590.00$770.00
Spondylocostal Dysostosis via the DLL3 Gene$680.00$690.00
Spondylocostal Dysostosis via the HES7 Gene$650.00
Spondylocostal Dysostosis via the LFNG Gene$670.00$690.00
Spondylocostal Dysostosis via the TBX6 Gene$750.00

Spondyloenchondrodysplasia

Test Available Sequencing Del/Dup Other
Spondyloenchondrodysplasia with Immune Dysregulation via the ACP5 Gene$490.00$690.00

Spondyloepimetaphyseal Dysplasia

Test Available Sequencing Del/Dup Other
Chronic Joint Pain and Dysfunction via the MMP13 Gene$750.00

Spondyloepimetaphyseal Dysplasia Matrilin-3 Related

Test Available Sequencing Del/Dup Other
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00

Spondyloepimetaphyseal Dysplasia Strudwick Type

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Spondyloepiphyseal Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00
TRPV4-related Disorders via the TRPV4 Gene$890.00$690.00

Spondyloepiphyseal Dysplasia Congenita

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Spondyloepiphyseal Dysplasia Tarda

Test Available Sequencing Del/Dup Other
X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT) via the TRAPPC2 Gene$520.00$690.00

Spondylometaepiphyseal Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via the DDR2 Gene$930.00$690.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Spondyloperipheral Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Stapes Ankylosis

Test Available Sequencing Del/Dup Other
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene$440.00

Stickler Syndrome

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1990.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00
Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 Gene$990.00$690.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene$990.00$690.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00

Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Test Available Sequencing Del/Dup Other
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via the BHLHA9 Gene$490.00

Tarsal Carpal Coalition Syndrome

Test Available Sequencing Del/Dup Other
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene$440.00

Temtamy Preaxial Brachydactyly Syndrome

Test Available Sequencing Del/Dup Other
Brachydactyly via the CHSY1 Gene$910.00

Terminal Osseous Dysplasia

Test Available Sequencing Del/Dup Other
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$690.00

Thanatophoric Dysplasia

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
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00
Thanatophoric Dysplasia (TD) via the FGFR3 Gene$520.00$690.00

TNF Receptor-Associated Periodic Fever Syndrome (TRAPS)

Test Available Sequencing Del/Dup Other
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00
TNF-Receptor Associated Periodic Syndrome (TRAPS) via the TNFRSF1A Gene$680.00$690.00

Tooth Agenesis

Test Available Sequencing Del/Dup Other
Amelogenesis Imperfecta Sequencing Panel$1740.00$1290.00
Dental Anomalies and Amelogenesis Imperfecta via the LTBP3 Gene$1560.00
Ectodermal Dysplasia Sequencing Panel$1440.00$840.00
Ectodermal Dysplasia via the EDA Gene$780.00$690.00
Ectodermal Dysplasia via the WNT10A Gene$580.00$690.00
Ectodermal Dysplasia/Tooth Agenesis via the MSX1 Gene$580.00
Tooth Agenesis Sequencing Panel$1790.00$840.00
Tooth Agenesis via the PAX9 Gene$610.00$690.00

Tricho-Dento-Osseous Syndrome

Test Available Sequencing Del/Dup Other
Amelogenesis Imperfecta via the DLX3 Gene$490.00$690.00

Trichorhinophalangeal Syndrome

Test Available Sequencing Del/Dup Other
Tricho-rhino-phalangeal Syndrome Types I & III via the TRPS1 Gene$860.00$690.00

Trichothiodystrophy Photosensitive

Test Available Sequencing Del/Dup Other
Xeroderma Pigmentosum Sequencing Panel$1890.00$840.00
Xeroderma Pigmentosum via the ERCC3 Gene$970.00$690.00

Trigonocephaly, Nonsyndromic

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

Tuberous Sclerosis

Test Available Sequencing Del/Dup Other
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

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

Ulnar-Mammary Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Ulnar-Mammary Syndrome via the TBX3 Gene$750.00$690.00

UV-Sensitive Syndrome

Test Available Sequencing Del/Dup Other
Cockayne Syndrome via the ERCC6 Gene$990.00$690.00
Cockayne Syndrome via the ERCC8 Gene$840.00$690.00

Van Der Woude Syndrome

Test Available Sequencing Del/Dup Other
IRF6-Related Disorders via the IRF6 Gene$670.00$690.00

Van Der Woude Syndrome 2

Test Available Sequencing Del/Dup Other
Van der Woude Syndrome (VWS) via the GRHL3 Gene$970.00

Variegate Porphyria

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

Vitamin D-Dependent Rickets, Type 2

Test Available Sequencing Del/Dup Other
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome (WHIM)

Test Available Sequencing Del/Dup Other
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome via the CXCR4 Gene$610.00$690.00

Watson Syndrome

Test Available Sequencing Del/Dup Other
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene$990.00$540.00

Weaver Syndrome

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

Weissenbacher-Zweymuller Syndrome

Test Available Sequencing Del/Dup Other
Stickler Syndrome Sequencing Panel$1840.00$840.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene$990.00$690.00

Werner Syndrome

Test Available Sequencing Del/Dup Other
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Werner Syndrome via the WRN Gene$990.00$690.00

Weyers Acrofacial Dysostosis

Test Available Sequencing Del/Dup Other
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Wiedemann-Steiner Syndrome

Test Available Sequencing Del/Dup Other
Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A Gene$990.00
Cornelia de Lange Syndrome Sequencing Panel$1790.00$840.00

Wilson-Turner syndrome

Test Available Sequencing Del/Dup Other
Cornelia de Lange Syndrome via the HDAC8 Gene$810.00
LAS1L-Related Disorders via the LAS1L Gene$940.00$690.00

Wrinkly Skin Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via the ATP6V0A2 Gene$1250.00$690.00

Xeroderma Pigmentosum

Test Available Sequencing Del/Dup Other
Xeroderma Pigmentosum Sequencing Panel$1890.00$840.00
Xeroderma Pigmentosum via the DDB2 Gene$710.00$690.00
Xeroderma Pigmentosum via the ERCC2 Gene$990.00$690.00
Xeroderma Pigmentosum via the ERCC3 Gene$970.00$690.00
Xeroderma Pigmentosum via the ERCC4 Gene$840.00$690.00
Xeroderma Pigmentosum via the ERCC5 Gene$990.00$690.00
Xeroderma Pigmentosum via the POLH Gene$840.00$690.00
Xeroderma Pigmentosum via the XPA Gene$680.00$690.00
Xeroderma Pigmentosum via the XPC Gene$970.00$690.00

XFE Progeroid Syndrome

Test Available Sequencing Del/Dup Other
Xeroderma Pigmentosum Sequencing Panel$1890.00$840.00
Xeroderma Pigmentosum via the ERCC4 Gene$840.00$690.00

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