Test Descriptions Found:

590

Internal Organs and Endocrinology

Acrodysostosis

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

Adenine Phosphoribosyltransferase Deficiency

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

Adenomatous Polyposis Coli

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Familial Adenomatous Polyposis via the APC Gene$1090.00$690.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
MUTYH Associated Polyposis (MAP) Syndrome via the MUTYH Gene$790.00$690.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00

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
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

Alpers syndrome

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$2540.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1740.00$1670.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00

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

Alport Syndrome

Test Available Sequencing Del/Dup Other
Alport Syndrome (AS) Sequencing Panel$1540.00$840.00
Alport Syndrome (AS) via the COL4A3 Gene$990.00$690.00
Alport Syndrome (AS) via the COL4A4 Gene$990.00$690.00
Alport Syndrome (AS) via the COL4A5 Gene$1090.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00

Alstrom Syndrome

Test Available Sequencing Del/Dup Other
Alstrom Syndrome via the ALMS1 Gene$1850.00$690.00

Amyloidogenic Transthyretin Amyloidosis

Test Available Sequencing Del/Dup Other
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Familial Amyloidosis via the TTR Gene$540.00$690.00

Amyloidosis

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

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 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

Ataxia-Oculomotor Apraxia

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

Barakat Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Hypoparathyroidism Sequencing Panel$1690.00$1290.00
Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR) via the GATA3 Gene$680.00$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

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

Bile Acid Synthesis Defect

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
Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene$990.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
X-Linked Adrenoleukodystrophy via the ABCD1 Gene$780.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

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

Branchiootic syndrome

Test Available Sequencing Del/Dup Other
Branchiootorenal Syndrome Sequencing Panel$1490.00$770.00
Branchiootorenal syndrome via the EYA1 Gene$870.00$690.00
Branchiootorenal syndrome via the SIX1 Gene$440.00$690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00

Branchiootorenal Syndrome

Test Available Sequencing Del/Dup Other
Branchiootorenal Syndrome Sequencing Panel$1490.00$770.00
Branchiootorenal syndrome via the SIX5 Gene$680.00$690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00

Brody Myopathy

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

Carcinoid Tumors, Intestinal

Test Available Sequencing Del/Dup Other
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel$1490.00$1290.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHD Gene$540.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00

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

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene$680.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Citrin Deficiency

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

Colorectal Cancer

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Colorectal Cancer Predisposition via the POLD1 Gene$1340.00$690.00
Colorectal Cancer Predisposition via the POLE Gene$2170.00$690.00
Colorectal Cancer Sequencing And Deletion/Duplication Panel$1190.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
Lynch Syndrome Sequencing and Deletion/Duplication Panel$990.00
Lynch Syndrome via the EPCAM Gene$780.00$690.00
Lynch Syndrome via the MLH3 Gene$1120.00$690.00
Lynch Syndrome via the MSH6 Gene$990.00$690.00
Lynch Syndrome via the PMS2 Gene$960.00$690.00
Oligodontia-Colorectal Cancer via the AXIN2 Gene$840.00$690.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
Renal Cancer Sequencing Panel$2590.00$1290.00

Congenital Adrenal Hypoplasia

Test Available Sequencing Del/Dup Other
NR0B1-Related Disorders via the NR0B1 Gene$540.00$690.00

Congenital Anomalies of Kidney and Urinary Tract

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via the DSTYK Gene$1020.00$690.00
Renal Hypodysplasia (RHD) via the SIX2 Gene$490.00$690.00

Congenital Central Hypoventilation syndrome

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

Congenital Cystic Disease Of Liver

Test Available Sequencing Del/Dup Other
Isolated Polycystic Liver Disease (PCLD) Sequencing Panel$1540.00$770.00
Isolated Polycystic Liver Disease (PCLD) via the PRKCSH Gene$970.00$690.00
Isolated Polycystic Liver Disease (PCLD) via the SEC63 Gene$990.00$690.00
Polycystic Liver Disease (PLD) Sequencing Panel$2140.00$1030.00

Congenital Nephrotic Syndrome, Finnish Type

Test Available Sequencing Del/Dup Other
Congenital Nephrotic Syndrome via the NPHS1 Gene$990.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00

Crigler-Najjar Syndrome

Test Available Sequencing Del/Dup Other
Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 Gene$680.00$690.00

Cystic Fibrosis

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$990.00$690.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel$2090.00$1290.00

Cystinuria

Test Available Sequencing Del/Dup Other
Cystinuria Sequencing Panel$1390.00
Cystinuria via the SLC3A1 Gene$780.00
Cystinuria via the SLC7A9 Gene$810.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00

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

Diabetes Mellitus

Test Available Sequencing Del/Dup Other
Hyperglycemia and Hypoglycemia via the GCK Gene$750.00$690.00
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via the FOXP3 Gene$870.00$690.00
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the INS Gene$440.00$690.00
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the NEUROD1 Gene$540.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 Gene$990.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Dubin-Johnson Syndrome

Test Available Sequencing Del/Dup Other
Dubin-Johnson Syndrome via the ABCC2 Gene$1500.00$690.00

Encephalomyopathy

Test Available Sequencing Del/Dup Other
Methylmalonic Acidemia Sequencing Panel$1440.00$840.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
SUCLA2 -Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLA2 Gene$810.00$690.00

Erythrocytosis

Test Available Sequencing Del/Dup Other
Von Hippel-Lindau Disease via the VHL Gene$520.00$690.00

Familial Hypoalphalipoproteinemia

Test Available Sequencing Del/Dup Other
Familial Amyloidosis via the APOA1 Gene$580.00$690.00

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 Medullary Thyroid Carcinoma

Test Available Sequencing Del/Dup Other
Multiple Endocrine Neoplasia Type 2A (MEN2A) and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene - Tier 1$590.00$690.00
Multiple Endocrine Neoplasia Type 2A (MEN2A) and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene - Tier 2$960.00$690.00

Familial Visceral Amyloidosis

Test Available Sequencing Del/Dup Other
Familial Amyloidosis via the APOA1 Gene$580.00$690.00

Focal Segmental Glomerulosclerosis

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Focal Segmental Glomerulosclerosis (FSGS) via the ACTN4 Gene$990.00$690.00
Focal Segmental Glomerulosclerosis (FSGS) via the ANLN Gene$990.00$690.00
Focal Segmental Glomerulosclerosis (FSGS) via the CD2AP Gene$990.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Steroid-Resistant Nephrotic Syndrome (SRNS)/ Focal Segmental Glomerulosclerosis (FSGS) via the TRPC6 Gene$940.00$690.00

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

Galloway-Mowat Syndrome

Test Available Sequencing Del/Dup Other
Galloway-Mowat Syndrome via the WDR73 Gene$780.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00

Gastric Cancer

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Hereditary Diffuse Gastric Cancer via the CDH1 Gene$960.00$690.00

Gastrointestinal Stromal Tumors

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Familial Gastrointestinal Stromal Tumors (GISTs) via the PDGFRA Gene$1280.00$690.00
Piebaldism and Familial Gastrointestinal Stromal Tumors (GISTs) via the KIT Gene$990.00$690.00

Gitelman Syndrome

Test Available Sequencing Del/Dup Other
Gitelman syndrome via the SLC12A3 Gene$990.00$690.00
Hypomagnesemia Sequencing Panel$1590.00$1290.00

Glycogen Storage Disease

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

Goldberg-Shprintzen Megacolon Syndrome

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

Hand Foot Uterus Syndrome

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

Hematuria, Familial Benign

Test Available Sequencing Del/Dup Other
Alport Syndrome (AS) Sequencing Panel$1540.00$840.00

Hereditary Angioneurotic Edema

Test Available Sequencing Del/Dup Other
Hereditary Angioedema via the SERPING1 /C1NH Gene$750.00$680.00

Hereditary Hemorrhagic Telangiectasia

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Colorectal Cancer Sequencing And Deletion/Duplication Panel$1190.00
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel$1440.00$770.00
Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) via the ACVRL1/ALK1 Gene$770.00$690.00
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) via the SMAD4 Gene$770.00$690.00

Hereditary Mixed Polyposis Syndrome 2

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Juvenile Polyposis Syndrome (JPS) via the BMPR1A Gene$690.00$690.00

Hirschsprung Diseae

Test Available Sequencing Del/Dup Other
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel$1540.00$840.00
Hirschsprung Disease (HSCR) via the RET Gene$990.00$690.00
Hirschsprung Disease (Non-syndromic) Sequencing Panel$1690.00$840.00
Hirschsprung Disease 2 (HSCR2) via the EDNRB Gene$680.00$690.00
Hirschsprung Disease 3 (HSCR3) via the GDNF Gene$540.00
Hirschsprung Disease 4 (HSCR4) via the EDN3 Gene$580.00$690.00
Hirschsprung Disease via the NRTN Gene$490.00
Hirschsprung Disease, Cardiac Defects and Autonomic Dysfunction via the ECE1 Gene$990.00$690.00
Waardenburg Syndrome Sequencing Panel$1290.00$840.00
Waardenburg Syndrome Type IVA via the EDNRB Gene$680.00$690.00
Waardenburg Syndrome Type IVB via the EDN3 Gene$580.00$690.00

Hypercalcemia

Test Available Sequencing Del/Dup Other
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel$1390.00$770.00
Hypercalcemic and Hypocalcemic Disorders via the CASR Gene$870.00$690.00

Hypercalciuria

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

Hypercholanemia, Familial

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

Hyperlipoproteinemia

Test Available Sequencing Del/Dup Other
Familial Lipoprotein Lipase Deficiency via the LPL Gene$750.00

Hyperparathyroidism

Test Available Sequencing Del/Dup Other
CDC73-Related Disorders via the CDC73 Gene$990.00$690.00

Hyperparathyroidism, Neonatal Severe Primary

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

Hyperthyroidism

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene$990.00$690.00

Hyperuricemic Nephropathy, Familial Juvenile

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via the UMOD Gene$910.00$690.00

Hypocalcemia

Test Available Sequencing Del/Dup Other
Hypercalcemic and Hypocalcemic Disorders via the CASR Gene$870.00$690.00
Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene$750.00$690.00
Hypomagnesemia Sequencing Panel$1590.00$1290.00
Hypoparathyroidism Sequencing Panel$1690.00$1290.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00

Hypocalciuric Hypercalcemia

Test Available Sequencing Del/Dup Other
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel$1390.00$770.00
Familial Hypocalciuric Hypercalcemia (FHH) via the AP2S1 gene$650.00$690.00
Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene$750.00$690.00
Hypoparathyroidism Sequencing Panel$1690.00$1290.00

Hypomagnesemia

Test Available Sequencing Del/Dup Other
Hypomagnesemia Sequencing Panel$1590.00$1290.00
Hypomagnesemia via the FXYD2 Gene$1590.00$690.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Renal Hypomagnesemia 5 via the CLDN19 Gene$540.00$690.00

Hypoparathyroidism

Test Available Sequencing Del/Dup Other
Familial Isolated Hypoparathyroidism via the GCM2 Gene$750.00$690.00
Familial Isolated Hypoparathyroidism via the PTH Gene$370.00$690.00
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

Hypothyroidism

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via the IGSF1 Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene$870.00$690.00
Congenital Hypothyroidism (Thyroid Hormone Resistance) via the THRA Gene$780.00$690.00
Congenital Hypothyroidism (Thyroid Stimulating Hormone Deficiency) via the TSHB Gene$440.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Hypothyroidism [Congenital, Nongoitrous] and Hyperthyroidism [Familial Gestational & Nonautoimmune] via the TSHR Gene$990.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00

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

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked (IPEX)

Test Available Sequencing Del/Dup Other
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via the FOXP3 Gene$870.00$690.00

Interstitial Lung and Liver Disease

Test Available Sequencing Del/Dup Other
Charcot Marie Tooth Type 2U via the MARS Gene$990.00$690.00

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

Juvenile Polyposis Syndrome

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Juvenile Polyposis Syndrome (JPS) via the BMPR1A Gene$690.00$690.00

Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia 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 Hemorrhagic Telangiectasia (HHT) Sequencing Panel$1440.00$770.00
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) via the SMAD4 Gene$770.00$690.00

Kallmann Syndrome 3

Test Available Sequencing Del/Dup Other
FGFR1-Related Disorders via the FGFR1 Gene$990.00$690.00
Kallmann Syndrome Sequencing Panel$1440.00$770.00

Karyomegalic Tubulointerstitial Nephritis

Test Available Sequencing Del/Dup Other
Karyomegalic Tubulointerstitial Nephritis (KTN) via the FAN1 Gene$1100.00$690.00

Klein-Waardenberg's Syndrome

Test Available Sequencing Del/Dup Other
Waardenburg Syndrome Types I and III via the PAX3 Gene$680.00$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

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

Liver Failure Acute Infantile

Test Available Sequencing Del/Dup Other
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via the TRMU Gene$780.00

Lynch Syndrome

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Colorectal Cancer Sequencing And Deletion/Duplication Panel$1190.00
Lynch Syndrome Sequencing and Deletion/Duplication Panel$990.00
Lynch Syndrome via the EPCAM Gene$780.00$690.00
Lynch Syndrome via the MLH1 Gene$990.00$690.00
Lynch Syndrome via the MSH2 Gene$990.00$690.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
Renal Cancer Sequencing Panel$2590.00$1290.00

Malignant Mesothelioma

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Tumor Predisposition Syndrome, Uveal Melanoma and Mesothelioma via the BAP1 Gene$970.00$690.00

Maturity-Onset Diabetes Of The Young

Test Available Sequencing Del/Dup Other
Autosomal Dominant and Recessive Polycystic Kidney Disease Sequencing Panel$2290.00$990.00
Autosomal Dominant Polycystic Kidney Disease Sequencing Panel$1990.00$960.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Congenital Hyperinsulinism Sequencing Panel$1490.00$840.00
Hyperglycemia and Hypoglycemia via the GCK Gene$750.00$690.00
Hypomagnesemia Sequencing Panel$1590.00$1290.00
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the INS Gene$440.00$690.00
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the NEUROD1 Gene$540.00$690.00
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel$1590.00$1290.00
Maturity Onset Diabetes of the Young (MODY) via the BLK Gene$870.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the HNF1A Gene$940.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the HNF4A Gene$940.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the KLF11 Gene$680.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene$780.00$690.00
Maturity Onset Diabetes of the Young (MODY) via the PDX1 gene$490.00$690.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Renal Cysts and Diabetes Syndrome via the HNF1B Gene$780.00$690.00

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

Medullary Cystic Kidney Disease

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via the UMOD Gene$910.00$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

Melnick-Fraser Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Congenital Cataracts Sequencing Panel$1840.00$840.00

Mitochondrial DNA Depletion Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene$580.00$690.00
DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the DGUOK Gene$650.00$690.00
FBXL4-Related Mitochondrial DNA Depletion Syndrome via the FBXL4 Gene$680.00$690.00
Methylmalonic Acidemia Sequencing Panel$1440.00$840.00
MGME1-Related Mitochondrial DNA Depletion Syndrome via the MGME1 Gene$580.00$690.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$780.00$690.00
SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene$750.00$690.00
SUCLG2-Related Mitochondrial DNA Depletion Syndrome via the SUCLG2 Gene$780.00$690.00
TK2-Related Mitochondrial DNA Depletion Syndrome via the TK2 Gene$710.00$690.00

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome

Test Available Sequencing Del/Dup Other
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via the TYMP Gene$710.00$690.00

Mowat-Wilson Syndrome

Test Available Sequencing Del/Dup Other
Mowat-Wilson Syndrome via the ZEB2 Gene$990.00$690.00

Multinodular Goiter

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
DICER1 Syndrome via the DICER1 Gene$990.00$690.00

Myofibromatosis

Test Available Sequencing Del/Dup Other
Infantile Myofibromatosis and Idiopathic Basal Ganglia Calcification via the PDGFRB Gene$990.00
Infantile Myofibromatosis Sequencing Panel$1390.00

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

Navajo Neurohepatopathy

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

Nephrogenic Diabetes Insipidus

Test Available Sequencing Del/Dup Other
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via the AVPR2 Gene$580.00$690.00
Nephrogenic Diabetes Insipidus (NDI) via the AQP2 Gene$540.00$690.00
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel$1390.00$770.00

Nephrogenic Syndrome Of Inappropriate Antidiuresis

Test Available Sequencing Del/Dup Other
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via the AVPR2 Gene$580.00$690.00
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel$1390.00$770.00

Nephrolithiasis

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

Nephrolithiasis?

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

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

Nephrotic Syndrome

Test Available Sequencing Del/Dup Other
Atypical Hemolytic-Uremic Syndrome and Nephrotic Syndrome via the DGKE Gene$910.00$690.00
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel$1540.00$1290.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Nephrotic Syndrome via the EMP2 Gene$580.00$690.00
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 Gene$990.00$690.00
Steroid-Resistant Nephrotic Syndrome (SRNS) via the PLCE1 Gene$990.00$690.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ8B/ADCK4 Gene$940.00$690.00
Steroid-Resistant Nephrotic syndrome via the WT1 Gene$840.00$690.00

Nephrotic Syndrome, Steroid-Resistant

Test Available Sequencing Del/Dup Other
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Steroid-Resistant Nephrotic Syndrome via the NPHS2 Gene$710.00$690.00

Nephrotic Syndrome, With Or Without Ocular Abnormalities

Test Available Sequencing Del/Dup Other
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 Gene$990.00$690.00

Neuroblastoma

Test Available Sequencing Del/Dup Other
Hereditary Neuroblastoma via the ALK Gene$990.00$690.00
Hereditary Neuroblastoma via the KIF1B Gene$1990.00$690.00
Hereditary Neuroblastoma via the PHOX2B Gene$540.00$690.00
Neuroblastoma Sequencing Panel$1770.00$770.00

Neurohypophyseal Diabetes Insipidus

Test Available Sequencing Del/Dup Other
Neurohypophyseal Diabetes Insipidus (NDI) via the AVP Gene$580.00$690.00
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel$1390.00$770.00

Niemann-Pick Disease

Test Available Sequencing Del/Dup Other
Niemann-Pick Disease Type C Sequencing Panel$1440.00$730.00
Niemann-Pick Disease Type C via the NPC1 Gene$990.00$690.00
Niemann-Pick Disease Type C via the NPC2 Gene$540.00$690.00
Niemann-Pick Disease Types A and B via the SMPD1 Gene$750.00$690.00

Pancreatic Cancer

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Fanconi Anemia via the BRCA2/FANCD1 Gene$990.00$690.00
Hereditary Breast and Ovarian Cancer BRCA1/2 Sequencing and Deletion/Duplication Panel$990.00
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
Pancreatic Cancer Sequencing Panel$1490.00$1290.00

Pancreatitis, Chronic

Test Available Sequencing Del/Dup Other
Chronic Hereditary Pancreatitis via the CPA1 Gene$750.00$690.00
Chronic Hereditary Pancreatitis via the PRSS1 Gene$650.00$690.00
Chronic Hereditary Pancreatitis via the SPINK1 Gene$540.00$690.00
Chronic Pancreatitis Sequencing Panel$1790.00$840.00
Chronic Pancreatitis via the Chymotrypsin C (CTRC) Gene$710.00$690.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$990.00$690.00

Papillorenal Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Renal Coloboma Syndrome and Isolated Renal Hypoplasia via the PAX2 Gene$780.00$690.00

Paraganglioma And Gastric Stromal Sarcoma

Test Available Sequencing Del/Dup Other
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel$1490.00$1290.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHB Gene$750.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHC Gene$730.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHD Gene$540.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00

Paragangliomas

Test Available Sequencing Del/Dup Other
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel$1490.00$1290.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHA Gene$1340.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHAF2 Gene$490.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHB Gene$750.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHC Gene$730.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHD Gene$540.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00

Parathyroid Carcinoma

Test Available Sequencing Del/Dup Other
CDC73-Related Disorders via the CDC73 Gene$990.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00

Perlman Syndrome

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

Permanent Neonatal Diabeties Mellitus

Test Available Sequencing Del/Dup Other
Hyperglycemia and Hypoglycemia via the GCK Gene$750.00$690.00
Maturity Onset Diabetes of the Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the INS Gene$440.00$690.00

Peutz-Jeghers 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
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
Peutz-Jeghers Syndrome via the STK11 Gene$710.00$540.00

Pheochromocytoma

Test Available Sequencing Del/Dup Other
Hereditary Neuroblastoma via the KIF1B Gene$1990.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel$1490.00$1290.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the MAX Gene$610.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHB Gene$750.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the SDHD Gene$540.00$690.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via the TMEM127 Gene$440.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00

Pierson Syndrome

Test Available Sequencing Del/Dup Other
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 Gene$990.00$690.00

Pigmented Nodular Adrenocortical Disease

Test Available Sequencing Del/Dup Other
Carney Complex (CNC) via the PRKAR1A Gene$750.00$690.00
Primary Pigmented Nodular Adrenocortical Disease via the PDE11A Gene$1250.00

Pituitary Adenoma, Dependent Hypercortisolism

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

Pituitary Hormone Deficiency

Test Available Sequencing Del/Dup Other
Combined Pituitary Hormone Deficiency-2 (CPHD2) via the PROP1 Gene$1490.00$690.00
Combined Pituitary Hormone Deficiency-4 (CPHD-4) via the LHX4 Gene$610.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Pleuropulmonary Blastoma

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
DICER1 Syndrome via the DICER1 Gene$990.00$690.00

Polycystic Kidney Disease

Test Available Sequencing Del/Dup Other
Autosomal Dominant and Recessive Polycystic Kidney Disease Sequencing Panel$2290.00$990.00
Autosomal Dominant Polycystic Kidney Disease Sequencing Panel$1990.00$960.00
Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene$1690.00$540.00
Autosomal Dominant Polycystic Kidney Disease via the PKD2 Gene$990.00$690.00
Polycystic Liver Disease (PLD) Sequencing Panel$2140.00$1030.00

Polycystic Kidney Disease, Infantile Type

Test Available Sequencing Del/Dup Other
Autosomal Dominant and Recessive Polycystic Kidney Disease Sequencing Panel$2290.00$990.00
Autosomal Recessive Polycystic Kidney Disease via the PKHD1 Gene$990.00$690.00

Preaxial Deficiency, Postaxial Polydactyly And Hypospadias

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

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

Primary Hyperoxaluria

Test Available Sequencing Del/Dup Other
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Primary Hyperoxaluria Sequencing Panel$1440.00$730.00
Primary Hyperoxaluria Type 1 via the AGXT Gene$810.00$690.00
Primary Hyperoxaluria type 2 via the GRHPR Gene$710.00$690.00

Primary Hypomegnesemia

Test Available Sequencing Del/Dup Other
Hypomagnesemia Sequencing Panel$1590.00$1290.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Renal Hypomagnesemia 3 via the CLDN16 Gene$580.00$690.00

Primary Macronodular Adrenal Hyperplasia

Test Available Sequencing Del/Dup Other
Primary Macronodular Adrenal Hyperplasia via the ARMC5 Gene$910.00

Progressive External Ophthalmoplegia with Mitochondrial DNA Depletion

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

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

Prolactinoma, Familial

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

Prostate Cancer

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Fanconi Anemia via the BRCA2/FANCD1 Gene$990.00$690.00
Hereditary Breast and Ovarian Cancer BRCA1/2 Sequencing and Deletion/Duplication Panel$990.00
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
Pancreatic Cancer Sequencing Panel$1490.00$1290.00

Pseudohypoaldosteronism

Test Available Sequencing Del/Dup Other
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene$780.00$690.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene$870.00$690.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene$780.00$690.00
Pseudohypoaldosteronism Type II Sequencing Panel$1490.00$840.00
Pseudohypoaldosteronism Type II via the CUL3 Gene$990.00$690.00
Pseudohypoaldosteronism Type II via the KLHL3 Gene$940.00$690.00
Pseudohypoaldosteronism Type II via the WNK1 Gene$990.00$690.00
Pseudohypoaldosteronism Type II via the WNK4 Gene$990.00$690.00

Pseudohypoaldosteronism, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene$910.00$690.00

Pseudohypoaldosteronism, Autosomal Recessive

Test Available Sequencing Del/Dup Other
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene$780.00$690.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene$870.00$690.00
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene$780.00$690.00

Renal Adysplasia

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Renal Coloboma Syndrome and Isolated Renal Hypoplasia via the PAX2 Gene$780.00$690.00

Renal Cell Carcinoma

Test Available Sequencing Del/Dup Other
Birt-Hogg-Dube Syndrome via the FLCN Gene$750.00$690.00
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Hereditary Papillary Renal Cell Carcinoma via the MET Gene$990.00$690.00
Renal Cancer Sequencing Panel$2590.00$1290.00

Renal Dysplasia And Retinal Aplasia

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene$990.00$690.00
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel$1840.00$1290.00

Renal Hypodysplasia/Aplasia

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

Renal Hypouricemia

Test Available Sequencing Del/Dup Other
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Renal Hypouricemia Type 2 via the SLC2A9 Gene$940.00

Renal Tubular Acidosis

Test Available Sequencing Del/Dup Other
Distal Renal Tubular Acidosis Sequencing Panel$1440.00$840.00
Distal Renal tubular acidosis with sensorineural deafness via the ATP6V1B1 Gene$910.00$690.00
Distal Renal Tubular Acidosis, Autosomal Recessive, via the ATP6V0A4 Gene$990.00$690.00
Hereditary Spherocytosis via the SLC4A1 Gene$990.00$690.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Proximal Renal Tubular Acidosis with Ocular Abnormalities via the SLC4A4 Gene$990.00

Renal Tubular Dysgenesis

Test Available Sequencing Del/Dup Other
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel$1440.00$840.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the ACE Gene$990.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGT Gene$680.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGTR1 Gene$540.00$690.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene$750.00$690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00

Rotor syndrome

Test Available Sequencing Del/Dup Other
Rotor Syndrome Sanger Sequencing Panel$2070.00$730.00
Rotor Syndrome via the SLCO1B1 Gene$1100.00$690.00
Rotor Syndrome via the SLCO1B3 Gene$970.00$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

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

Shwachman Syndrome

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

Singleton-Merten Syndrome 1

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

Situs Inversus

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
Heterotaxy, Visceral 5 (HTX5) via the NODAL Gene$580.00$690.00

Surfactant Metabolism Dysfunction

Test Available Sequencing Del/Dup Other
Surfactant Protein B Deficiency via the SFTPB Gene$810.00$690.00
Surfactant Protein C Deficiency via the SFTPC gene$650.00$690.00

Syndactyly Cenani Lenz Type

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

Thyroid Dyshormonogenesis

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOXA2 Gene$610.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the IYD/DEHAL1 Gene$650.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the SLC5A5/NIS Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TG Gene$990.00$690.00
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO Gene$990.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Thyroid Hormone Metabolism

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
SECISBP2-Related Disorders via the SECISBP2 Gene$990.00

Thyroid Hormone Resistance

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Thyroid Hormone Resistance via the THRB Gene$710.00$690.00

Thyrotropin-Releasing Hormone Deficiency

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via the TRH Gene$540.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Tropical Cacific Pancreatitis

Test Available Sequencing Del/Dup Other
Chronic Hereditary Pancreatitis via the SPINK1 Gene$540.00$690.00

Tumor Predisposition Syndrome

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Renal Cancer Sequencing Panel$2590.00$1290.00
Tumor Predisposition Syndrome, Uveal Melanoma and Mesothelioma via the BAP1 Gene$970.00$690.00

Urofacial Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Urofacial Syndrome 1 via the HPSE2 Gene$970.00
Urofacial Syndrome 2 via the LRIG2 Gene$1100.00

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

Vesicoureteral Reflux

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

Von Hippel-Lindau Syndrome

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Renal Cancer Sequencing Panel$2590.00$1290.00
Von Hippel-Lindau Disease via the VHL Gene$520.00$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

Wilms' Tumor

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Renal Cancer Sequencing Panel$2590.00$1290.00
Wilms Tumor via the WT1 Gene$840.00$690.00

Wolfram-Like Syndrome, Autosomal Dominant

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

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