Test Descriptions Found:

546

Multiple Malformations/Anomalies Syndromes

3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency

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

46,XY Sex Reversal, Type 5

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

46,XY Sex Reversal, Type 6

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

Acrocallosal Syndrome

Test Available Sequencing Del/Dup Other
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene$990.00$690.00
Joubert and Meckel-Gruber Syndromes Sequencing Panel$1890.00$1290.00

Adrenoleukodystrophy

Test Available Sequencing Del/Dup Other
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
X-Linked Adrenoleukodystrophy via the ABCD1 Gene$780.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Agnathia-Otocephaly Complex

Test Available Sequencing Del/Dup Other
Agnathia-Otocephaly Complex Sanger Sequencing Panel$1070.00$690.00
Agnathia-Otocephaly Complex via the PRRX1 Gene$580.00

Andersen Tawil Syndrome

Test Available Sequencing Del/Dup Other
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene$440.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Long QT Syndrome Sequencing Panel$1740.00$1290.00
Primary Periodic Paralysis Sequencing Panel$1490.00$770.00

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

Anterior Segment Dysgenesis

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Anterior Segment Dysgenesis via FOXE3 Gene$580.00$690.00
Cataract Type 11 via the PITX3 Gene$580.00
Congenital Cataracts Sequencing Panel$1840.00$840.00

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

Arterial Tortuosity Syndrome

Test Available Sequencing Del/Dup Other
Arterial tortuosity syndrome (ATS) via the SLC2A10 gene$750.00$690.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1890.00$1290.00

Arthrogryposis

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 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$1890.00$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
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

Axenfeld-Rieger Syndrome

Test Available Sequencing Del/Dup Other
Aniridia via The PAX6 Gene$910.00$690.00
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Congenital Cataracts Sequencing Panel$1840.00$840.00
FOXC1-Related Disorders via the FOXC1 Gene$870.00$690.00
Glaucoma Sequencing Panel$1940.00$840.00
PITX2- Related Disorders via PITX2 Gene$580.00$690.00

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

Bannayan-Riley-Ruvalcaba Syndrome

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Colorectal Cancer Sequencing And Deletion/Duplication Panel$1190.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC HIGH RISK Sequencing and Deletion/Duplication Panel$1090.00
PTEN Hamartoma Tumor Syndrome via the PTEN Gene$810.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00

Baraitser-Winter Syndrome

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

Bardet-Biedl Syndrome

Test Available Sequencing Del/Dup Other
Bardet-Biedl Syndrome Sequencing Panel$1690.00$1290.00
Bardet-Biedl Syndrome via the ARL6/BBS3 Gene$610.00$690.00
Bardet-Biedl Syndrome via the BBS1 Gene$890.00$690.00
Bardet-Biedl Syndrome via the BBS10 Gene$580.00$690.00
Bardet-Biedl Syndrome via the BBS12 Gene$580.00$690.00
Bardet-Biedl Syndrome via the BBS2 Gene$910.00$690.00
Bardet-Biedl Syndrome via the BBS4 Gene$910.00$690.00
Bardet-Biedl Syndrome via the BBS5 Gene$780.00$690.00
Bardet-Biedl Syndrome via the BBS7 Gene$990.00$690.00
Bardet-Biedl Syndrome via the BBS9 Gene$990.00$690.00
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene$650.00$690.00
Bardet-Biedl Syndrome via the TRIM32/BBS11 Gene$580.00$690.00
Bardet-Biedl Syndrome via the TTC8/BBS8 Gene$870.00$690.00
Ciliopathy Sequencing Panel$2990.00$1670.00
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
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene$990.00$690.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$990.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene$990.00$690.00

Bartter Syndrome

Test Available Sequencing Del/Dup Other
Bartter Syndrome Type 1 via the SLC12A1 Gene$990.00$690.00
Bartter Syndrome Type 2 via the KCNJ1 Gene$610.00$690.00
Bartter Syndrome Type 4 via the BSND Gene$580.00$690.00
Hypomagnesemia Sequencing Panel$1590.00$1290.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00

Beckwith-Wiedemann Syndrome

Test Available Sequencing Del/Dup Other
Beckwith-Wiedemann Syndrome via the CDKN1C Gene$630.00$690.00

Beta-Mannosidosis

Test Available Sequencing Del/Dup Other
β-Mannosidase Deficiency via the MANBA Gene$1590.00$690.00

Borjeson-Forssman-Lehmann Syndrome

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

Branchiooculofacial Syndrome

Test Available Sequencing Del/Dup Other
Branchio-Oculo-Facial Syndrome (BOFS) via the TFAP2A gene$680.00$690.00

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

Cardio-Facio-Cutaneous syndrome

Test Available Sequencing Del/Dup Other
BRAF-Related Disorders via the BRAF Gene$990.00$690.00
Cardio-Facio-Cutaneous Syndrome via the MAP2K1 Gene$910.00$690.00
Cardio-Facio-Cutaneous Syndrome via the MAP2K2 Gene$730.00$690.00
Comprehensive Fetal and Neonatal Loss Panel
Fetal Concerns Sequencing Panel$1590.00
KRAS-Related Disorders via the KRAS Gene$490.00$690.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00

Central Core Disease

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

Cerebroretinal Microangiopathy

Test Available Sequencing Del/Dup Other
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene$1220.00
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel$1680.00$840.00

Char Syndrome

Test Available Sequencing Del/Dup Other
Char Syndrome via the TFAP2B Gene$710.00$690.00

CHARGE Syndrome

Test Available Sequencing Del/Dup Other
CHARGE and Kallmann Syndromes Sequencing Panel$1440.00$730.00
CHARGE and Kallmann Syndromes via the CHD7 Gene$990.00$690.00
CHARGE Syndrome via the SEMA3E Gene$990.00

Child Syndrome

Test Available Sequencing Del/Dup Other
NSDHL-Related Disorders via the NSDHL Gene$610.00$690.00

CHOPS Syndrome

Test Available Sequencing Del/Dup Other
CHOPS Syndrome via the AFF4 Gene$990.00
Cornelia de Lange Syndrome Sequencing Panel$1790.00$840.00

COACH Syndrome

Test Available Sequencing Del/Dup Other
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene$990.00$690.00

Cockayne Syndrome

Test Available Sequencing Del/Dup Other
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Cockayne Syndrome via the ERCC6 Gene$990.00$690.00
Cockayne Syndrome via the ERCC8 Gene$840.00$690.00

Congenital Cataracts, Facial Dysmorphism, And Neuropathy

Test Available Sequencing Del/Dup Other
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel$1690.00$1290.00
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene$990.00$690.00
Congenital Cataracts Sequencing Panel$1840.00$840.00

Congenital Contractural Arachnodactyly

Test Available Sequencing Del/Dup Other
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$1890.00$1290.00

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

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

Costello Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
Costello Syndrome via the HRAS Gene$440.00$690.00
Fetal Concerns Sequencing Panel$1590.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00

Cowden Syndrome

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Colorectal Cancer Sequencing And Deletion/Duplication Panel$1190.00
Cowden and Cowden-like Syndromes via the PIK3CA Gene$1100.00$690.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC HIGH RISK Sequencing and Deletion/Duplication Panel$1090.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel$1490.00$1290.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHD Gene$540.00$690.00
PTEN Hamartoma Tumor Syndrome via the PTEN Gene$810.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00

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

Deficiency Of Alpha-Mannosidase

Test Available Sequencing Del/Dup Other
Alpha-Mannosidosis via the MAN2B1 Gene$1280.00

Diaphanospondylodysostosis

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

Drash Syndrome

Test Available Sequencing Del/Dup Other
Renal Cancer Sequencing Panel$2590.00$1290.00
Wilms Tumor via the WT1 Gene$840.00$690.00

Ectodermal Dysplasia

Test Available Sequencing Del/Dup Other
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene$490.00$690.00
Ectodermal Dysplasia Sequencing Panel$1440.00$840.00
Ectodermal Dysplasia via the EDARADD Gene$650.00$690.00
Ectodermal Dysplasia via the KRT85 Gene$780.00

Ectodermal Dysplasia, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Ectodermal Dysplasia Sequencing Panel$1440.00$840.00
Ectodermal Dysplasia via the EDAR Gene$750.00$690.00

Ectodermal Dysplasia, Autosomal Recessive

Test Available Sequencing Del/Dup Other
Ectodermal Dysplasia Sequencing Panel$1440.00$840.00
Ectodermal Dysplasia via the EDAR Gene$750.00$690.00
Ectodermal Dysplasia via the EDARADD Gene$650.00$690.00
Ectodermal Dysplasia via the NECTIN1 Gene$750.00
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene$990.00$690.00

Ectodermal Dysplasia, X-Linked

Test Available Sequencing Del/Dup Other
Ectodermal Dysplasia Sequencing Panel$1440.00$840.00
Ectodermal Dysplasia via the EDA Gene$780.00$690.00

Escobar Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
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

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
Otopalatodigital Spectrum Disorders, Periventricular Nodular Heterotopia and Cardiac Valvular Dystrophy via the FLNA Gene$990.00$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

Foveal Hypoplasia And Presenile Cataract Syndrome

Test Available Sequencing Del/Dup Other
Aniridia via The PAX6 Gene$910.00$690.00
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00

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

Fraser Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Fraser Syndrome Sequencing Panel$1490.00$770.00

Frasier Syndrome

Test Available Sequencing Del/Dup Other
Renal Cancer Sequencing Panel$2590.00$1290.00
Wilms Tumor via the WT1 Gene$840.00$690.00

Freeman-Sheldon Syndrome

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
Distal Arthrogryposis/Gordon Syndrome via the PIEZO2 Gene$990.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$990.00$690.00
Tropomyosin 2-Related Disorders via the TPM2 Gene$610.00$690.00

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

Fumarase Deficiency

Test Available Sequencing Del/Dup Other
Hereditary Leiomyomatosis and Renal Cell Cancer or Fumarase Deficiency via the FH Gene$750.00$690.00

Genitopatellar Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
Fetal Concerns Sequencing Panel$1590.00
KAT6B-Related Disorders via the KAT6B Gene$990.00$690.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00

Gorlin Syndrome

Test Available Sequencing Del/Dup Other
Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the PTCH1 Gene$1130.00$690.00

Holoprosencephaly

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

Hutchinson-Gilford Progeria

Test Available Sequencing Del/Dup Other
Hutchinson-Gilford Progeria Syndrome (HGPS) via the LMNA Gene$610.00$690.00
Laminopathies via the LMNA Gene$610.00$690.00

Hydrolethalus syndrome

Test Available Sequencing Del/Dup Other
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene$990.00$690.00

Iridogoniodysgenesis

Test Available Sequencing Del/Dup Other
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
FOXC1-Related Disorders via the FOXC1 Gene$870.00$690.00
Glaucoma Sequencing Panel$1940.00$840.00
PITX2- Related Disorders via PITX2 Gene$580.00$690.00

Johanson-Blizzard Syndrome

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Johanson-Blizzard Syndrome via the UBR1 Gene$990.00$690.00

Joubert Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Ciliopathy Sequencing Panel$2990.00$1670.00
Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1670.00
Joubert and Meckel-Gruber Syndromes Sequencing Panel$1890.00$1290.00
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene$990.00$690.00
Joubert and Meckel-Gruber Syndromes via the CEP290 Gene$990.00$690.00
Joubert and Meckel-Gruber Syndromes via the RPGRIP1L Gene$990.00$690.00
Joubert Syndrome via the AHI1 Gene$990.00$690.00
Joubert Syndrome via the ARL13B Gene$710.00$690.00
Joubert Syndrome via the C5orf42 Gene$990.00$690.00
Joubert Syndrome via the INPP5E Gene$810.00$690.00
Joubert Syndrome via the TMEM138 Gene$540.00$690.00
Joubert Syndrome via the TMEM216 Gene$560.00$690.00
Joubert Syndrome via the TMEM237 Gene$970.00$690.00
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene$990.00$690.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$990.00$690.00
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene$990.00$690.00
OFD1-Related Disorders via the OFD1 Gene$990.00$690.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Kabuki Syndrome

Test Available Sequencing Del/Dup Other
Kabuki Syndrome Sequencing Panel$1740.00$730.00
Kabuki Syndrome via the KDM6A Gene$990.00$690.00
Kabuki Syndrome via the KMT2D Gene$990.00$690.00

KBG Syndrome

Test Available Sequencing Del/Dup Other
Cornelia de Lange Syndrome Sequencing Panel$1790.00$840.00
Cornelia de Lange Syndrome via the ANKRD11 Gene$840.00$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

Lenz Microphthalmia Syndrome

Test Available Sequencing Del/Dup Other
X-linked Lenz Microphthalmia Syndrome and Lethal Ogden Syndrome via the NAA10 Gene$680.00

LEOPARD Syndrome

Test Available Sequencing Del/Dup Other
BRAF-Related Disorders via the BRAF Gene$990.00$690.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00
PTPN11-Related Disorders via the PTPN11 Gene$940.00$690.00
RAF1-Related Disorders via the RAF1 Gene$970.00$690.00

Lethal Congenital Contracture Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
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
GLE1-Related Disorders via the GLE1 Gene$990.00$690.00
Rapsyn-Related Disorders via the RAPSN Gene$610.00$690.00

LIG4

Test Available Sequencing Del/Dup Other
LIG4 Syndrome via the LIG4 Gene$680.00

Loeys-Dietz syndrome

Test Available Sequencing Del/Dup Other
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$1890.00$1290.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the SMAD3 gene$780.00$690.00

Lujan-Fryns Syndrome

Test Available Sequencing Del/Dup Other
Lujan Syndrome, FG Syndrome Type 1 and Ohdo Syndrome via the MED12 Gene$1850.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Manitoba Oculotrichoanal Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Fraser Syndrome Sequencing Panel$1490.00$770.00
Manitoba Oculotrichoanal Syndrome (MOTA) via the FREM1 Exon 8-23 Deletion$250.00

Marden-Walker Syndrome

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

Martsolf Syndrome

Test Available Sequencing Del/Dup Other
Warburg Micro Syndrome Sequencing Panel$1490.00$840.00

Mckusick Kaufman Syndrome

Test Available Sequencing Del/Dup Other
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene$650.00$690.00
Ciliopathy Sequencing Panel$2990.00$1670.00

Meckel Syndrome

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Joubert and Meckel-Gruber Syndromes Sequencing Panel$1890.00$1290.00

Meckel-Gruber Syndrome

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Joubert and Meckel-Gruber Syndromes Sequencing Panel$1890.00$1290.00
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene$990.00$690.00
Joubert and Meckel-Gruber Syndromes via the CEP290 Gene$990.00$690.00
Joubert and Meckel-Gruber Syndromes via the RPGRIP1L Gene$990.00$690.00
Joubert Syndrome via the TMEM216 Gene$560.00$690.00
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene$990.00$690.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$990.00$690.00
Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene$990.00$690.00
Meckel-Gruber syndrome via the B9D1 Gene$610.00$690.00
Meckel-Gruber Syndrome via the MKS1 Gene$990.00$690.00

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

Microcephaly

Test Available Sequencing Del/Dup Other
CENPJ-Related Disorders via the CENPJ Gene$1060.00$690.00
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
Lymphedema Sequencing Panel$1940.00$840.00
Microcephaly, Lymphedema, and Chorioretinal Dysplasia (MLCRD) / Chorioretinal Dysplasia, Microcephaly, and Mental Retardation (CDMMR) / Familial Exudative Vitreoretinopathy (FEVR) via the KIF11 Gene$990.00$690.00
Nijmegen Breakage Syndrome via the NBN Gene$990.00$690.00
Primary Microcephaly, Autosomal Recessive, Sanger Sequencing Panel$8340.00$840.00
Primary Microcephaly, Autosomal Recessive, via the ASPM Gene$2170.00$690.00
Primary Microcephaly, Autosomal Recessive, via the CDK5RAP2 Gene$1750.00$690.00
Primary Microcephaly, Autosomal Recessive, via the CEP152 Gene$1490.00$690.00
Primary Microcephaly, Autosomal Recessive, via the MCPH1 Gene$780.00$690.00
Primary Microcephaly, Autosomal Recessive, via the STIL Gene$1130.00$690.00
Primary Microcephaly, Autosomal Recessive, via the WDR62 Gene$1430.00$690.00
Primordial Dwarfism via the XRCC4 Gene$750.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00

Microphthalmia

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
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
Glaucoma Sequencing Panel$1940.00$840.00
Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1670.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
Male Infertility Sequencing Panel$2190.00$1670.00
MFRP-Related Oculopathy via the MFRP Gene$810.00$690.00
Posterior Microphthalmia via the PRSS56 Gene$780.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
SOX2-Related Ocular Disorders via the SOX2 Gene$610.00$690.00
Syndromic Microphthalmia via the OTX2 Gene$490.00$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

Miller-Dieker Lissencephaly Syndrome

Test Available Sequencing Del/Dup Other
Miller-Dieker Lissencephaly Syndrome via the YWHAE Gene$580.00$690.00

Mosaic Variegated Aneuploidy Syndrome

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Mosaic Variegated Aneuploidy Syndrome via the BUB1B Gene$990.00$690.00
Mosaic Variegated Aneuploidy Syndrome via the CEP57 Gene$970.00$690.00

Mowat-Wilson Syndrome

Test Available Sequencing Del/Dup Other
Mowat-Wilson Syndrome via the ZEB2 Gene$990.00$690.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel$1990.00$1290.00

Multiple Sulfatase Deficiency

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
Fetal Concerns Sequencing Panel$1590.00
Multiple Sulfatase Deficiency / Mucosulfatidosis via the SUMF1 Gene$680.00$690.00

Nephronophthisis

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene$990.00$690.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene$990.00$690.00
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel$1840.00$1290.00
Nephronophthisis and Senior-Loken Syndrome via the CEP164 Gene$990.00
Nephronophthisis and Senior-Loken syndrome via the NPHP3 Gene$990.00$690.00
Nephronophthisis and Situs Inversus via the ANKS6 Gene$990.00
Nephronophthisis via the GLIS2 / NPHP7 Gene$610.00$690.00
Nephronophthisis via the INVS / NPHP2 Gene$940.00$690.00
Nephronophthisis via the NEK8/NPHP9 Gene$870.00$690.00
Nephronophthisis via the NPHP4 Gene$990.00$690.00
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via the XPNPEP3 Gene$790.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00

Neurofibromatosis 1-like syndrome (Legius Syndrome)

Test Available Sequencing Del/Dup Other
Legius Syndrome via the SPRED1 Gene$650.00$690.00
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel$1440.00$960.00

Neurofibromatosis-Noonan Syndrome

Test Available Sequencing Del/Dup Other
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

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

Nijmegen Breakage Syndrome

Test Available Sequencing Del/Dup Other
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
Nijmegen Breakage Syndrome via the NBN Gene$990.00$690.00

Nijmegen Breakage Syndrome-Like Disorder

Test Available Sequencing Del/Dup Other
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
Hereditary Breast and Ovarian Cancer via the RAD50 Gene$990.00$690.00

Noonan Syndrome

Test Available Sequencing Del/Dup Other
BRAF-Related Disorders via the BRAF Gene$990.00$690.00
CBL-Related Disorders via the CBL Gene$990.00$690.00
Comprehensive Fetal and Neonatal Loss Panel
Fetal Concerns Sequencing Panel$1590.00
KRAS-Related Disorders via the KRAS Gene$490.00$690.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00
Noonan Syndrome via the LZTR1 Gene$990.00
Noonan Syndrome via the NRAS Gene$490.00$690.00
Noonan Syndrome via the RIT1 Gene$680.00
Noonan Syndrome via the SOS1 Gene$990.00$690.00
Noonan Syndrome via the SOS2 Gene$990.00
Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 Gene$710.00$690.00
PTPN11-Related Disorders via the PTPN11 Gene$940.00$690.00
RAF1-Related Disorders via the RAF1 Gene$970.00$690.00

Oculofaciocardiodental Syndrome

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR Gene$990.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Ogden Syndrome

Test Available Sequencing Del/Dup Other
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

OHDO Syndrome

Test Available Sequencing Del/Dup Other
Lujan Syndrome, FG Syndrome Type 1 and Ohdo Syndrome via the MED12 Gene$1850.00$690.00

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

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

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

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

Perlman Syndrome

Test Available Sequencing Del/Dup Other
Perlman Syndrome via the DIS3L2 Gene$1220.00$690.00

Peters Anomaly

Test Available Sequencing Del/Dup Other
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00
PITX2- Related Disorders via PITX2 Gene$580.00$690.00

Peters Plus Syndrome

Test Available Sequencing Del/Dup Other
Peters Plus Syndrome via the B3GALTL/B3GLCT Gene$1060.00$690.00

Pituitary Adenoma, Dependent Hypercortisolism

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

Polyglandular Autoimmune Syndrome

Test Available Sequencing Del/Dup Other
Autoimmune Polyendocrinopathy Syndrome Type 1 via the AIRE Gene$970.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Hypoparathyroidism Sequencing Panel$1690.00$1290.00
Male Infertility Sequencing Panel$2190.00$1670.00

Popliteal Pterygium Syndrome

Test Available Sequencing Del/Dup Other
IRF6-Related Disorders via the IRF6 Gene$670.00$690.00
Popliteal Pterygium Syndrome 2, Lethal Type via the RIPK4 Gene$810.00$690.00

Prader-Willi Syndrome

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

Premature Chromatid Separation Trait

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Mosaic Variegated Aneuploidy Syndrome via the BUB1B Gene$990.00$690.00

Primary Ciliary Dyskinesia (PCD)

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Primary Ciliary Dyskinesia (PCD) via the C21ORF59 Gene$680.00
Primary Ciliary Dyskinesia (PCD) via the CCDC103 Gene$490.00
Primary Ciliary Dyskinesia (PCD) via the CCDC114 Gene$870.00
Primary Ciliary Dyskinesia (PCD) via the CCDC39 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the CCDC40 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the CCDC65 Gene$990.00
Primary Ciliary Dyskinesia (PCD) via the CCNO Gene$580.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF1 / LRRC50 Gene$840.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF2 Gene$750.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAAF5 (HEATR2) Gene$970.00
Primary Ciliary Dyskinesia (PCD) via the DNAH11 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAH5 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAH8 Gene$990.00
Primary Ciliary Dyskinesia (PCD) via the DNAI1 Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAI2 Gene$810.00$690.00
Primary Ciliary Dyskinesia (PCD) via the DNAL1 Gene$690.00$690.00
Primary Ciliary Dyskinesia (PCD) via the LRRC6 Gene$910.00
Primary Ciliary Dyskinesia (PCD) via the NME8 (TXNDC3) Gene$890.00$690.00
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene$1090.00$690.00
Primary Ciliary Dyskinesia (PCD) via the RSPH4A Gene$690.00$690.00
Primary Ciliary Dyskinesia (PCD) via the RSPH9 Gene$540.00$690.00
Primary Ciliary Dyskinesia (PCD) via the SPAG1 Gene$990.00
Primary Ciliary Dyskinesia (PCD) via the ZMYND10 Gene$750.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel$2090.00$1290.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel$1990.00$1290.00
Primary Ciliary Dyskinesia via the DNAAF3 Gene$870.00$690.00

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

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

Refsum Disease

Test Available Sequencing Del/Dup Other
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
Refsum Disease via the PHYH Gene$840.00$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

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

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

Senior-Loken Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Ciliopathy Sequencing Panel$2990.00$1670.00
Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$1670.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$990.00$690.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene$990.00$690.00
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel$1840.00$1290.00
Nephronophthisis and Senior-Loken Syndrome via the IQCB1/NPHP5 Gene$790.00$690.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00

Simpson-Golabi-Behmel Syndrome

Test Available Sequencing Del/Dup Other
OFD1-Related Disorders via the OFD1 Gene$990.00$690.00
Simpson-Golabi-Behmel Syndrome via the GPC3 Gene$680.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Stickler Syndrome

Test Available Sequencing Del/Dup Other
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
Stickler Syndrome, Type I (STL1) via the COL2A1 Gene$2020.00$690.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00

Tay-Sachs disease

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

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

Timothy Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Long QT Syndrome Sequencing Panel$1740.00$1290.00
Short QT Syndrome Sequencing Panel$1740.00$840.00
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene$990.00$690.00

Townes-Brocks Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Townes-Brocks Syndrome via the SALL1 Gene$890.00$690.00

Treacher Collins syndrome

Test Available Sequencing Del/Dup Other
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
Treacher Collins Syndrome via the POLR1C Gene$710.00
Treacher Collins Syndrome via the POLR1D Gene$440.00
Treacher Collins Syndrome via the TCOF1 Gene$990.00
Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel$1440.00

VACTERL Association With Hydrocephalus

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

Vater Association

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) and VACTERL Association via the TRAP1 Gene$1100.00$690.00

Waardenburg Syndrome

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Hirschsprung Disease 2 (HSCR2) via the EDNRB Gene$680.00$690.00
Hirschsprung Disease 4 (HSCR4) via the EDN3 Gene$580.00$690.00
Waardenburg Syndrome Sequencing Panel$1290.00$840.00
Waardenburg Syndrome Type IIA via the MITF Gene$780.00$690.00
Waardenburg Syndrome Type IID via the SNAI2 Gene$540.00$690.00
Waardenburg Syndrome Type IVA via the EDNRB Gene$680.00$690.00
Waardenburg Syndrome Type IVB via the EDN3 Gene$580.00$690.00
Waardenburg Syndrome Types I and III via the PAX3 Gene$680.00$690.00
Waardenburg Syndrome Types IIE and IVC via the SOX10 Gene$680.00$690.00

Warburg Micro Syndrome

Test Available Sequencing Del/Dup Other
Warburg Micro Syndrome Sequencing Panel$1490.00$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

Young Simpson Syndrome

Test Available Sequencing Del/Dup Other
KAT6B-Related Disorders via the KAT6B Gene$990.00$690.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00

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