Test Descriptions Found:

523

Hematology and Immunology

CMA

Aase Syndrome

Test Available Sequencing Del/Dup Other
Diamond-Blackfan Anemia Sequencing Panel with CNV Detection$1660.00

Acute Myeloid Leukemia

Test Available Sequencing Del/Dup Other
Acute Myeloid Leukemia (AML) via the CEBPA Gene$580.00$690.00
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene$990.00$690.00$1060.00
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection$1680.00
Dyskeratosis Congenita (DC) via the TERT Gene$990.00$690.00$1090.00
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via the GATA2 Gene$680.00$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 Endometrial Cancer Sequencing and Deletion/Duplication Panel$790.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) via the DDX41 Gene$990.00
Hereditary Myelodysplastic Syndrome (MDS)/Acute Myeloid Leukemia (AML) Sequencing Panel$750.00$840.00
Hereditary Ovarian Cancer Sequencing and Deletion/Duplication Panel$790.00
Hereditary Thrombocytopenia and Hematologic Malignancy via the ETV6 Gene$690.00$690.00$750.00
Interstitial Lung Disease Sequencing Panel with CNV Detection$1770.00
Li-Fraumeni Syndrome via the TP53 Gene$770.00$690.00
Lymphedema Sequencing Panel$1940.00$840.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
Renal Cancer Sequencing Panel$2590.00$1290.00
Thrombocytopenia and Predisposition to Myeloid Malignancies via the ANKRD26 Gene$690.00$690.00$2020.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00
Thrombocytopenia via the MASTL Gene$690.00$690.00$890.00
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 Gene$680.00$690.00

Afibrinogenemia

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Congenital Fibrinogen Deficiency Sequencing Panel$690.00$770.00
Congenital Fibrinogen Deficiency via the FGA Gene$810.00$690.00
Congenital Fibrinogen Deficiency via the FGB Gene$690.00$690.00$810.00
Congenital Fibrinogen Deficiency via the FGG Gene$690.00$690.00$780.00

Agammaglobulinemia

Test Available Sequencing Del/Dup Other
Agammaglobulinemia Sequencing Panel with CNV Detection$1490.00
Common Variable Immune Deficiency/IgA Deficiency via the TNFRSF13B Gene$610.00$690.00
Hyper IgM Syndrome Sequencing Panel with CNV Detection$1490.00
X-linked Agammaglobulinemia via the BTK Gene$1100.00$690.00

Alpha-Thalassemia Myelodysplasia Syndrome

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

Anti-Plasmin Deficiency

Test Available Sequencing Del/Dup Other
Anti-Plasmin Deficiency via the SERPINF2 Gene$780.00$690.00
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00

Antithrombin III Deficiency

Test Available Sequencing Del/Dup Other
Antithrombin Deficiency via the SERPINC1 Gene$780.00$690.00

ATR-X Syndrome

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

Autoimmune Disease

Test Available Sequencing Del/Dup Other
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection$1690.00

Autoimmune Lymphoproliferative Syndrome

Test Available Sequencing Del/Dup Other
Autoimmune Lymphoproliferative Syndrome via the FAS Gene$810.00$690.00
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection$1690.00

Bernard Soulier Syndrome

Test Available Sequencing Del/Dup Other
Bernard-Soulier Syndrome via the GP1BA Gene$580.00$690.00
Bernard-Soulier Syndrome via the GP1BB Gene$490.00$690.00
Bernard-Soulier Syndrome via the GP9 Gene$370.00$690.00
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Platelet Function Disorder Sequencing Panel$1640.00$1290.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Bleeding Disorder, Platelet

Test Available Sequencing Del/Dup Other
ADP Receptor Deficiency via the P2RY12 Gene$440.00$690.00
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Familial Platelet Function Disorder via the GP6 Gene$810.00$690.00
Platelet Function Disorder Sequencing Panel$1640.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00
Thromboxane A2 Receptor Deficiency via the TBXA2R Gene$580.00$690.00

Bone Marrow Failure Syndrome

Test Available Sequencing Del/Dup Other
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene$990.00$690.00$1060.00
Hereditary Myelodysplastic Syndrome (MDS)/Acute Myeloid Leukemia (AML) Sequencing Panel$750.00$840.00

Caspase-8 Deficiency

Test Available Sequencing Del/Dup Other
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection$1690.00

Chediak-Higashi Syndrome

Test Available Sequencing Del/Dup Other
Chediak-Higashi Syndrome (CHS) via the LYST Gene$690.00$690.00$2360.00
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome

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

Chronic Infantile Neurological, Cutaneous And Articular Syndrome

Test Available Sequencing Del/Dup Other
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$690.00$690.00$1060.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Combined Factor V and Factor VIII Deficiency

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Combined Factor V and Factor VIII Deficiency via the LMAN1 Gene$990.00$690.00$990.00
Combined Factor V and Factor VIII Deficiency via the MCFD2 Gene$540.00$690.00

Congenital Amegakaryocytic Thrombocytopenia

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Congenital Amegakaryocytic Thrombocytopenia (CAMT) and Thrombocythemia 2 via the MPL Gene$710.00$690.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Congenital Disorder Of Glycosylation

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Disorder of Glycosylation, Type Iu and Secondary Dystroglycanopathy via the DPM2 Gene$490.00$690.00
Congenital Disorders of Glycosylation (CDG) Sanger Sequencing Panel 1$1790.00$770.00
Congenital Disorders of Glycosylation (CDG) Sanger Sequencing Panel 2$3370.00$840.00
Congenital Disorders of Glycosylation, Type Ia (CDG-Ia) via the PMM2 Gene$650.00$690.00
Congenital Disorders of Glycosylation, Type Ib (CDG Ib) via the MPI Gene$650.00$690.00
Congenital Disorders of Glycosylation, Type Ic (CDG Ic) via the ALG6 Gene$810.00$690.00
Congenital Disorders of Glycosylation, Type Id (CDG Id) via the ALG3 Gene$680.00$690.00
Congenital Disorders of Glycosylation, Type Ie (CDG Ie) via the DPM1 Gene$650.00$690.00
Congenital Disorders of Glycosylation, Type If (CDG If) via the MPDU1 Gene$610.00$690.00
Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via the ALG12 Gene$680.00$690.00
Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via the ALG8 Gene$810.00$690.00
Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via the ALG2 Gene$540.00$690.00
Congenital Disorders of Glycosylation, Type IIj via the COG4 Gene$1100.00
Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via the DPM3 Gene$490.00$690.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel$1790.00$1290.00
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel$1890.00$1290.00
Leukocyte Adhesion Deficiency Type 2 (LADII) via the SLC35C1 Gene$490.00$690.00
Metabolic Hypoglycemia Sequencing Panel$1690.00$1290.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Pan Cardiomyopathy Sequencing Panel with CNV Detection$1980.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

Cyclical Neutropenia

Test Available Sequencing Del/Dup Other
Severe Congenital Neutropenia and Cyclic Neutropenia via the ELANE Gene$560.00$690.00
Severe Congenital Neutropenia Sequencing Panel$1440.00$840.00

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

Diamond-Blackfan Anemia

Test Available Sequencing Del/Dup Other
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPL11 Gene$650.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS17 Gene$540.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS19 Gene$650.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS24 Gene$680.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS26 Gene$580.00
Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS7 Gene$680.00
Diamond-Blackfan Anemia Sequencing Panel with CNV Detection$1660.00

Distichiasis-Lymphedema Syndrome

Test Available Sequencing Del/Dup Other
Lymphedema Sequencing Panel$1940.00$840.00
Lymphedema-Distichiasis Syndrome via the FOXC2 Gene$560.00$690.00

Dyserythropoietic Anemia

Test Available Sequencing Del/Dup Other
Congenital Dyserythropoietic Anemia Sequencing Panel$690.00$840.00
Congenital Dyserythropoietic Anemia Type I via the C15orf41 Gene$690.00$690.00$810.00
Congenital Dyserythropoietic Anemia Type I via the CDAN1 Gene$990.00$690.00$1530.00
Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene$990.00$690.00$1310.00
Congenital Dyserythropoietic Anemia Type IV via the KLF1 Gene$990.00$690.00

Elliptocytosis

Test Available Sequencing Del/Dup Other
Hereditary Spherocytosis/Elliptocytosis via the SPTA1 Gene$990.00$690.00$2550.00
Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene$990.00$690.00$1720.00
Spherocytosis/Elliptocytosis Sequencing Panel$1490.00$840.00

Epstein Syndrome

Test Available Sequencing Del/Dup Other
MYH9-Related Disorders via the MYH9 Gene$690.00$690.00$1750.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Erythropoietic Porphyria

Test Available Sequencing Del/Dup Other
Chronic/Cutaneous Porphyria Sequencing Panel$1390.00$840.00
Congenital Erythropoietic Porphyria via the UROS Gene$690.00$750.00
Porphyria Sequencing Panel$1390.00$840.00

Erythropoietic Protoporphyria

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

Essential Thrombocythemia

Test Available Sequencing Del/Dup Other
Hereditary Thrombocythemia via the THPO Gene$650.00$690.00

Factor V Deficiency

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Factor V Deficiency via the F5 Gene$1290.00$690.00$1780.00

Factor VII Deficiency

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Factor VII Deficiency via the F7 Gene$750.00$690.00

Factor X Deficiency

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Factor X Deficiency via the F10 Gene$690.00$690.00$710.00

Factor XIII Deficiency

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Congenital Factor XIII deficiency via the F13A1 Gene$690.00$690.00$970.00
Congenital Factor XIII Deficiency via the F13B Gene$970.00$690.00

Familial Amyloid Nephropathy

Test Available Sequencing Del/Dup Other
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$690.00$690.00$1060.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Familial Cold Autoinflammatory Syndrome

Test Available Sequencing Del/Dup Other
Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 Gene$990.00$690.00$1020.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Familial Cold Urticaria

Test Available Sequencing Del/Dup Other
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$690.00$690.00$1060.00

Familial Erythrocytosis

Test Available Sequencing Del/Dup Other
Primary Familial and Congenital Polycythemia (PFCP) via the EPOR Gene$750.00$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 Porphyria Cutanea Tarda

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

Fanconi Anemia

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Fanconi Anemia Sequencing Panel$1030.00$1290.00
Fanconi Anemia via the BRCA2/FANCD1 Gene$990.00$690.00$1920.00
Fanconi Anemia via the BRIP1/FANCJ Gene$990.00$690.00$1150.00
Fanconi Anemia via the FANCA Gene$690.00$690.00$1780.00
Fanconi Anemia via the FANCC Gene$690.00$690.00$860.00
Fanconi Anemia via the FANCD2 Gene$1490.00$690.00$1930.00
Fanconi Anemia via the FANCE Gene$690.00$690.00$780.00
Fanconi Anemia via the FANCF Gene$490.00$690.00
Fanconi Anemia via the FANCG Gene$690.00$690.00$840.00
Fanconi Anemia via the FANCI Gene$990.00$690.00$1610.00
Fanconi Anemia via the FANCL Gene$690.00$690.00$910.00
Fanconi Anemia via the FANCM Gene$690.00$690.00$1490.00
Fanconi Anemia via the PALB2/FANCN Gene$990.00$690.00$1020.00
Fanconi Anemia via the RAD51/FANCR Gene$990.00
Fanconi Anemia via the RAD51C/FANCO Gene$680.00$690.00
Fanconi Anemia via the SLX4/FANCP Gene$990.00$690.00$1120.00
Fanconi Anemia, X-linked, via the FANCB Gene$690.00$690.00$890.00

Fechtner Syndrome

Test Available Sequencing Del/Dup Other
MYH9-Related Disorders via the MYH9 Gene$690.00$690.00$1750.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Fetal Hemoglobin

Test Available Sequencing Del/Dup Other
Congenital Dyserythropoietic Anemia Type IV via the KLF1 Gene$990.00$690.00

Ghosal Syndrome

Test Available Sequencing Del/Dup Other
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

Glanzmann's Thrombasthenia

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Glanzmann's Thrombasthenia Sequencing Panel$690.00$730.00
Glanzmann's Thrombasthenia via the ITGA2B Gene$690.00$690.00$1220.00
Glanzmann's Thrombasthenia via the ITGB3 Gene$690.00$690.00$970.00
Platelet Function Disorder Sequencing Panel$1640.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Gluthathione Synthetase Deficiency

Test Available Sequencing Del/Dup Other
Glutathione Synthetase Deficiency via the GSS Gene$910.00$690.00

Glycogen Storage Disease

Test Available Sequencing Del/Dup Other
Autosomal Recessive Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1890.00$1290.00
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
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$690.00$690.00$1100.00
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$690.00$690.00$1590.00
Glycogen Storage Disease Type IV via the GBE1 Gene$990.00$690.00$990.00
Glycogen Storage Disease Type IX via the PHKA1 Gene$990.00$690.00$1650.00
Glycogen Storage Disease Type IX via the PHKA2 Gene$690.00$690.00$1540.00
Glycogen Storage Disease Type IX via the PHKB Gene$690.00$690.00$1540.00
Glycogen Storage Disease Type IX via the PHKG2 Gene$610.00$690.00
Glycogen Storage Disease Type VI via the PYGL Gene$690.00$690.00$990.00
Glycogen Storage Disease Type VII (Tarui Disease) via the PFKM Gene$990.00$690.00$1130.00
Glycogen Storage Disease Type X via the PGAM2 Gene$490.00
Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Sequential Test$890.00$690.00
Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Tier 1$370.00$690.00
Glycogen Storage Disease, Type V (McArdle Disease) via the PYGM Gene - Tier 2$830.00$690.00
GYG1-Related Disorders via the GYG1 Gene$750.00
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection$1770.00
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1990.00$1670.00
Metabolic Hypoglycemia Sequencing Panel$1690.00$1290.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Pan Cardiomyopathy Sequencing Panel with CNV Detection$1980.00

Granulomatous Disease, Chronic

Test Available Sequencing Del/Dup Other
Chronic Granulomatous Disease Sequencing Panel$690.00$770.00
Chronic Granulomatous Disease via the CYBA Gene$650.00$690.00
Chronic Granulomatous Disease via the CYBB Gene$690.00$690.00$870.00
Chronic Granulomatous Disease via the NCF2 Gene$940.00$690.00
Chronic Granulomatous Disease via the NCF4 Gene$990.00

Gray Platelet Syndrome

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Gray Platelet Syndrome via the NBEAL2 Gene$690.00$690.00$2160.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Griscelli Syndrome

Test Available Sequencing Del/Dup Other
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel$1440.00$840.00
Griscelli Syndrome-Type 2 (GS2) via the RAB27A Gene$540.00$690.00
Oculocutaneous Albinism in Griscelli syndrome via the MYO5A Gene$990.00
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00

Hematuria, Familial Benign

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

Hemochromatosis

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection$2240.00
Disorders of Sex Development Sequencing Panel with CNV Detection$1990.00
Female Infertility Sequencing Panel with CNV Detection$1990.00
Hereditary Hemochromatosis Sequencing Panel$1490.00$730.00
Hereditary Hemochromatosis via the HFE gene$610.00$690.00
Hereditary Hemochromatosis via the SLC40A1 Gene$690.00$690.00$870.00
Hereditary Hemochromatosis via the TFR2 Gene$690.00$1130.00
Juvenile Hereditary Hemochromatosis via the HAMP Gene$440.00
Juvenile Hereditary Hemochromatosis via the HFE2 (HJV) Gene$650.00
Male Infertility Sequencing Panel with CNV Detection$2190.00

Hemolytic Anemia

Test Available Sequencing Del/Dup Other
Glucose Phosphate Isomerase Deficiency via the GPI Gene$1060.00$690.00
Glucose-6-Phosphate Dehydrogenase Deficiency via the G6PD Gene$810.00$690.00

Hemophagocytic Lymphohistiocytosis

Test Available Sequencing Del/Dup Other
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel$1440.00$840.00
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via the PRF1 Gene$590.00$690.00
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Gene$690.00$690.00$1540.00
Familial Hemophagocytic Lymphohistiocytosis-Type 4 (FHL4) via the STX11 Gene$480.00$690.00
Familial Hemophagocytic Lymphohistiocytosis-Type 5 (FHL5) via the STXBP2 Gene$690.00$690.00$960.00

Hemophilia A

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Hemophilia A via the F8 Gene$690.00$690.00$1720.00

Hennekam Syndrome

Test Available Sequencing Del/Dup Other
Hennekam Lymphangiectasia-Lymphedema Syndrome via the CCBE1 Gene$690.00$690.00$750.00
Lymphedema Sequencing Panel$1940.00$840.00

Hereditary Angioneurotic Edema

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

Hereditary Factor IX Deficiency Disease

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Hemophilia B via the F9 Gene$750.00$690.00

Hereditary Factor XI Deficiency Disease

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Hemophilia C via the F11 Gene$690.00$690.00$870.00

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
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel$1440.00$770.00
Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) via the ACVRL1/ALK1 Gene$690.00$690.00$770.00
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) via the SMAD4 Gene$770.00$690.00

Hereditary Lymphedema

Test Available Sequencing Del/Dup Other
Hereditary Lymphedema via the GJC2 Gene$540.00$690.00
Hereditary Xerocytosis via the PIEZO1 Gene$690.00$2520.00
Lymphedema Sequencing Panel$1940.00$840.00
Milroy Disease (Lymphedema Type I) via the FLT4 Gene$990.00$690.00$1620.00

Hereditary Neutrophilia

Test Available Sequencing Del/Dup Other
Severe Congenital Neutropenia and Neutrophilia via the CSF3R Gene$990.00$690.00
Severe Congenital Neutropenia Sequencing Panel$1440.00$840.00

Hereditary Pyropoikilocytosis

Test Available Sequencing Del/Dup Other
Spherocytosis/Elliptocytosis Sequencing Panel$1490.00$840.00

Hereditary Sideroblastic Anemia

Test Available Sequencing Del/Dup Other
X-linked Sideroblastic Anemia via the ALAS2 Gene$1020.00$690.00

Hereditary Spherocytosis

Test Available Sequencing Del/Dup Other
Hereditary Spherocytosis Type 1 via the ANK1 Gene$990.00$690.00$1960.00
Spherocytosis/Elliptocytosis Sequencing Panel$1490.00$840.00

Hermansky-Pudlak Syndrome

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Hermansky-Pudlak Syndrome (HPS) Sequencing Panel$1490.00$840.00
Hermansky-Pudlak Syndrome Type 1 (HPS1) via the HPS1 Gene$910.00$690.00
Hermansky-Pudlak Syndrome Type 2 (HPS2) via the AP3B1 Gene$990.00$690.00$1280.00
Hermansky-Pudlak Syndrome Type 3 (HPS3) via the HPS3 Gene$990.00$690.00$1010.00
Hermansky-Pudlak Syndrome Type 4 (HPS4) via the HPS4 Gene$690.00$690.00$910.00
Hermansky-Pudlak Syndrome Type 5 (HPS5) via the HPS5 Gene$990.00$690.00$1290.00
Hermansky-Pudlak Syndrome Type 6 (HPS6) via the HPS6 Gene$680.00$690.00
Hermansky-Pudlak Syndrome Type 7 (HPS7) via the DTNBP1 Gene$690.00$690.00$780.00
Hermansky-Pudlak Syndrome Type 8 (HPS8) via the BLOC1S3 Gene$440.00$690.00
Hermansky-Pudlak Syndrome Type 9 (HPS9) via the BLOC1S6/PLDN Gene$610.00
Hermansky-Pudlak Syndrome via the HPS3 Gene, Exon 1 Deletion$250.00
Interstitial Lung Disease Sequencing Panel with CNV Detection$1770.00
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Platelet Function Disorder Sequencing Panel$1640.00$1290.00

Homocystinuria

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
Disorders of Folate Metabolism and Transport Sequencing Panel$1290.00$730.00
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel$1590.00$1290.00
Homocystinuria Sequencing Panel$1440.00$840.00
Homocystinuria via the CBS Gene$690.00$690.00$1100.00
Homocystinuria, cblE Type, via the MTRR Gene$990.00$690.00$1060.00
Homocystinuria, cblG Type, via the MTR Gene$990.00$690.00$1650.00
Hyperammonemia Sequencing Panel$1690.00$1670.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Methylmalonic Acidemia Sequencing Panel$1440.00$840.00
Methylmalonic Aciduria and Homocystinuria Sequencing Panel$1440.00$770.00
Methylmalonic Aciduria and Homocystinuria, cblD type, via the MMADHC Gene$650.00$690.00
Organic Aciduria Sequencing Panel$1490.00$1290.00
Severe MTHFR Deficiency via the MTHFR Gene$690.00$690.00$780.00

Hyperferritinemia Cataract Syndrome

Test Available Sequencing Del/Dup Other
Hereditary Hemochromatosis Sequencing Panel$1490.00$730.00

Hyperimmunoglobulin D

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

Hyperimmunoglobulin E Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene$990.00$690.00$1310.00
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene$690.00$690.00$2450.00
Hyper IgE Syndrome Sequencing Panel$1440.00$770.00
Interstitial Lung Disease Sequencing Panel with CNV Detection$1770.00

Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Test Available Sequencing Del/Dup Other
Lymphedema Sequencing Panel$1940.00$840.00
Lymphedema with Hypotrichosis and Telangiectasia via the SOX18 Gene$590.00$690.00

Idiopathic Hypereosinophilic Syndrome

Test Available Sequencing Del/Dup Other
Familial Gastrointestinal Stromal Tumors (GISTs) via the PDGFRA Gene$1280.00$690.00

IL12RB1 Deficiency

Test Available Sequencing Del/Dup Other
IL-12 Receptor B1 Deficiency via the IL12RB1 Gene$1220.00$690.00

Immunodeficiency

Test Available Sequencing Del/Dup Other
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection$1690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Cone-Rod Dystrophy via the UNC119 Gene$610.00$690.00
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via the GATA2 Gene$680.00$690.00
Hyper IgE Syndrome Sequencing Panel$1440.00$770.00
Hyper IgM Syndrome Sequencing Panel with CNV Detection$1490.00
Primary Immunodeficiency via the PIK3CD gene$1310.00

Immunodeficiency With Hyper IgM

Test Available Sequencing Del/Dup Other
Hyper IgM Syndrome Sequencing Panel with CNV Detection$1490.00
Hyper IgM Syndrome via the AICDA Gene$580.00$690.00
X-Linked Hyper IgM Syndrome via the CD40LG gene$650.00$690.00

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

Immunoglobulin A Deficiency

Test Available Sequencing Del/Dup Other
Common Variable Immune Deficiency/IgA Deficiency via the TNFRSF13B Gene$610.00$690.00

Interleukin 36 Receptor Antagonist Deficiency

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

IRAK4 Deficiency

Test Available Sequencing Del/Dup Other
Primary Immunodeficiency via the IRAK4 Gene$910.00$690.00

Lymphedema

Test Available Sequencing Del/Dup Other
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via the GATA2 Gene$680.00$690.00
Hereditary Myelodysplastic Syndrome (MDS)/Acute Myeloid Leukemia (AML) Sequencing Panel$750.00$840.00
Lymphedema Sequencing Panel$1940.00$840.00

Lymphoproliferative Syndrome

Test Available Sequencing Del/Dup Other
Agammaglobulinemia Sequencing Panel with CNV Detection$1490.00
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection$1690.00
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel$1440.00$840.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via the SH2D1A Gene$490.00$690.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via the XIAP/BIRC4 Gene$650.00$690.00
Hyper IgM Syndrome Sequencing Panel with CNV Detection$1490.00

Majeed Syndrome

Test Available Sequencing Del/Dup Other
Majeed Syndrome via the LPIN2 Gene$990.00$690.00$1220.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

May-Hegglin Anomaly

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
MYH9-Related Disorders via the MYH9 Gene$690.00$690.00$1750.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

McLeod Syndrome

Test Available Sequencing Del/Dup Other
McLeod Syndrome via the XK Gene$610.00$690.00

Methemoglobinemia

Test Available Sequencing Del/Dup Other
Congenital Methemoglobinemia via the CYB5R3 Gene$750.00$690.00

Microcytic Anemia

Test Available Sequencing Del/Dup Other
Iron-Refractory Iron Deficiency Anemia (IRIDA) via the TMPRSS6 gene$1280.00$690.00

Moyamoya Disease

Test Available Sequencing Del/Dup Other
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the ACTA2 gene$650.00$690.00

Myelodysplastic Syndrome

Test Available Sequencing Del/Dup Other
Acute Myeloid Leukemia (AML) via the CEBPA Gene$580.00$690.00
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene$990.00$690.00$1060.00
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection$1680.00
Dyskeratosis Congenita (DC) via the TERT Gene$990.00$690.00$1090.00
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via the GATA2 Gene$680.00$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 Endometrial Cancer Sequencing and Deletion/Duplication Panel$790.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) via the DDX41 Gene$990.00
Hereditary Myelodysplastic Syndrome (MDS)/Acute Myeloid Leukemia (AML) Sequencing Panel$750.00$840.00
Hereditary Ovarian Cancer Sequencing and Deletion/Duplication Panel$790.00
Hereditary Thrombocytopenia and Hematologic Malignancy via the ETV6 Gene$690.00$690.00$750.00
Interstitial Lung Disease Sequencing Panel with CNV Detection$1770.00
Li-Fraumeni Syndrome via the TP53 Gene$770.00$690.00
Lymphedema Sequencing Panel$1940.00$840.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
Renal Cancer Sequencing Panel$2590.00$1290.00
Thrombocytopenia and Predisposition to Myeloid Malignancies via the ANKRD26 Gene$690.00$690.00$2020.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00
Thrombocytopenia via the MASTL Gene$690.00$690.00$890.00
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 Gene$680.00$690.00

Myeloid Leukemia

Test Available Sequencing Del/Dup Other
Acute Myeloid Leukemia (AML) via the CEBPA Gene$580.00$690.00
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene$990.00$690.00$1060.00
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection$1680.00
Dyskeratosis Congenita (DC) via the TERT Gene$990.00$690.00$1090.00
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via the GATA2 Gene$680.00$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 Endometrial Cancer Sequencing and Deletion/Duplication Panel$790.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) via the DDX41 Gene$990.00
Hereditary Myelodysplastic Syndrome (MDS)/Acute Myeloid Leukemia (AML) Sequencing Panel$750.00$840.00
Hereditary Ovarian Cancer Sequencing and Deletion/Duplication Panel$790.00
Hereditary Thrombocytopenia and Hematologic Malignancy via the ETV6 Gene$690.00$690.00$750.00
Interstitial Lung Disease Sequencing Panel with CNV Detection$1770.00
Li-Fraumeni Syndrome via the TP53 Gene$770.00$690.00
Lymphedema Sequencing Panel$1940.00$840.00
Pancreatic Cancer Sequencing Panel$1490.00$1290.00
Renal Cancer Sequencing Panel$2590.00$1290.00
Thrombocytopenia and Predisposition to Myeloid Malignancies via the ANKRD26 Gene$690.00$690.00$2020.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00
Thrombocytopenia via the MASTL Gene$690.00$690.00$890.00
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 Gene$680.00$690.00

Netherton Syndrome

Test Available Sequencing Del/Dup Other
Hyper IgE Syndrome Sequencing Panel$1440.00$770.00
Netherton Syndrome via the SPINK5 Gene$990.00$690.00$1720.00

Neu-Laxova syndrome

Test Available Sequencing Del/Dup Other
Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1 via the PHGDH Gene$810.00

Neutropenia

Test Available Sequencing Del/Dup Other
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00
Severe Congenital Neutropenia (Dursun Syndrome) via the G6PC3 Gene$610.00$690.00
Severe Congenital Neutropenia (Kostmann Disease) via the HAX1 gene$560.00$690.00
Severe Congenital Neutropenia and Cyclic Neutropenia via the ELANE Gene$560.00$690.00
Severe Congenital Neutropenia and Neutrophilia via the CSF3R Gene$990.00$690.00
Severe Congenital Neutropenia Sequencing Panel$1440.00$840.00
Severe Congenital Neutropenia via the GFI1 gene$670.00$690.00
Severe Congenital Neutropenia via the VPS45 Gene$690.00$970.00
Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via the WAS Gene$710.00$690.00

Neutropenia, Nonimmune Chronic Idiopathic

Test Available Sequencing Del/Dup Other
Severe Congenital Neutropenia Sequencing Panel$1440.00$840.00
Severe Congenital Neutropenia via the GFI1 gene$670.00$690.00

Omenn Syndrome

Test Available Sequencing Del/Dup Other
Omenn Syndrome Sequencing Panel$1390.00$840.00
Severe Combined Immunodeficiency/Omenn Syndrome via the DCLRE1C (ARTEMIS) Gene$990.00$690.00$1100.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG1 Gene$690.00$690.00$750.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG2 Gene$580.00$690.00

Osler Hemorrhagic Telangiectasia Syndrome

Test Available Sequencing Del/Dup Other
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel$1440.00$770.00
Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) / Osler-Weber-Rendu Disease via the ENG Gene$690.00$690.00$990.00

Ovalocytosis

Test Available Sequencing Del/Dup Other
Hereditary Spherocytosis via the SLC4A1 Gene$690.00$690.00$1190.00

Pelger-Huet Anomaly

Test Available Sequencing Del/Dup Other
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via the LBR Gene$870.00$690.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

Periodic Fever

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

Phosphoglycerate Dehydrogenase Deficiency

Test Available Sequencing Del/Dup Other
Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1 via the PHGDH Gene$810.00

Phosphoglycerate Kinase Deficiency

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$2390.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Phosphoglycerate Kinase Deficiency via the PGK1 Gene$690.00$690.00$810.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$2940.00

Plasminogen Activator Inhibitor

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00

Prothrombin Deficiency

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
Prothrombin/Factor II Deficiency via the F2 Gene$690.00$690.00$990.00

Pseudo Von Willebrand Disease

Test Available Sequencing Del/Dup Other
Bernard-Soulier Syndrome via the GP1BA Gene$580.00$690.00
Platelet Function Disorder Sequencing Panel$1640.00$1290.00

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

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

Pyruvate Kinase Deficiency

Test Available Sequencing Del/Dup Other
Pyruvate Kinase Deficiency with Hemolytic Anemia via the PKLR Gene$840.00$690.00

Schimke Immunoosseous Dysplasia

Test Available Sequencing Del/Dup Other
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Schimke Immunoosseous Dysplasia via the SMARCAL1 Gene$690.00$690.00$1120.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00

Scott Syndrome

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Platelet Function Disorder Sequencing Panel$1640.00$1290.00
Scott Syndrome via the ANO6 Gene$990.00$690.00

Sebastian Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection$2690.00
MYH9-Related Disorders via the MYH9 Gene$690.00$690.00$1750.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Severe Combined Immunodeficiency

Test Available Sequencing Del/Dup Other
Adenosine Deaminase Deficiency via the ADA Gene$810.00$690.00
Severe Combined Immunodeficiency/Omenn Syndrome via the DCLRE1C (ARTEMIS) Gene$990.00$690.00$1100.00
Severe Combined Immunodeficiency/Omenn Syndrome via the IL7R Gene$690.00$690.00$780.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG1 Gene$690.00$690.00$750.00
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG2 Gene$580.00$690.00
X-linked Severe Combined Immunodeficiency via the IL2RG Gene$680.00$690.00

Severe Congenital Neutropenia

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

Sickle Cell Anemia

Test Available Sequencing Del/Dup Other
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene$490.00

Sitosterolemia

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Comprehensive Cardiology Sequencing Panel with CNV Detection$2400.00
Sitosterolemia Sequencing Panel$690.00
Sitosterolemia via the ABCG5 Gene$870.00
Sitosterolemia via the ABCG8 Gene$690.00$940.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Spherocytosis

Test Available Sequencing Del/Dup Other
Hereditary Spherocytosis via the EPB42 Gene$690.00$690.00$870.00
Hereditary Spherocytosis via the SLC4A1 Gene$690.00$690.00$1190.00
Hereditary Spherocytosis/Elliptocytosis via the SPTA1 Gene$990.00$690.00$2550.00
Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene$990.00$690.00$1720.00
Spherocytosis/Elliptocytosis Sequencing Panel$1490.00$840.00

Spondyloenchondrodysplasia

Test Available Sequencing Del/Dup Other
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$2190.00
Spondyloenchondrodysplasia with Immune Dysregulation via the ACP5 Gene$490.00$690.00

Thalassemias

Test Available Sequencing Del/Dup Other
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene$490.00

Thiamine Responsive Megaloblastic Anemia Syndrome

Test Available Sequencing Del/Dup Other
Thiamine Responsive Megaloblastic Anemia via the SLC19A2 Gene$650.00

Thiopurine Methyltransferase Deficiency

Test Available Sequencing Del/Dup Other
Thiopurine S-Methyltransferase (TPMT) Deficiency via the TPMT Gene$750.00

Thrombocythemia

Test Available Sequencing Del/Dup Other
Congenital Amegakaryocytic Thrombocytopenia (CAMT) and Thrombocythemia 2 via the MPL Gene$710.00$690.00

Thrombocytopenia

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Congenital Amegakaryocytic Thrombocytopenia (CAMT) and Thrombocythemia 2 via the MPL Gene$710.00$690.00
Congenital Dyserythropoietic Anemia Sequencing Panel$690.00$840.00
Hereditary Myelodysplastic Syndrome (MDS)/Acute Myeloid Leukemia (AML) Sequencing Panel$750.00$840.00
Hereditary Thrombocytopenia and Hematologic Malignancy via the ETV6 Gene$690.00$690.00$750.00
Paris-Trousseau Thrombocytopenia via the FLI1 Gene$810.00
Thrombocytopenia and Predisposition to Myeloid Malignancies via the ANKRD26 Gene$690.00$690.00$2020.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00
Thrombocytopenia via the CYCS Gene$370.00
Thrombocytopenia via the GATA1 Gene$560.00$690.00
Thrombocytopenia via the MASTL Gene$690.00$690.00$890.00
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 Gene$680.00$690.00
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene$540.00
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene - Sequencing and 1q21.1 Deletion$1190.00
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A 1q21.1 Deletion$750.00
Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via the WAS Gene$710.00$690.00

Thrombophilia, Protein C Deficiency

Test Available Sequencing Del/Dup Other
Protein C Deficiency via the PROC Gene$710.00$690.00

Thrombophilia, Protein S Deficiency

Test Available Sequencing Del/Dup Other
Protein S Deficiency via the PROS1 Gene$910.00$690.00

Thrombotic Thrombocytopenic Purpura

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00
Thrombotic Thrombocytopenic Purpura (TTP) via the ADAMTS13 Gene$690.00$690.00$1220.00

TNF Receptor-Associated Periodic Fever Syndrome (TRAPS)

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

Tyrosine Kinase 2 Deficiency

Test Available Sequencing Del/Dup Other
Hyper IgE Syndrome Sequencing Panel$1440.00$770.00
TYK2 Deficiency via the TYK2 Gene$990.00

Von Willebrand Disease

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene$1290.00$690.00$2610.00

Von Willebrand Disease, Recessive Form

Test Available Sequencing Del/Dup Other
Coagulation Factor Deficiency Sequencing Panel$1990.00$1290.00
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene$1290.00$690.00$2610.00

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

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

Wiskott-Aldrich Syndrome

Test Available Sequencing Del/Dup Other
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00
Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via the WAS Gene$710.00$690.00

Xerocytosis

Test Available Sequencing Del/Dup Other
Hereditary Xerocytosis Sequencing Panel$1490.00
Hereditary Xerocytosis via the PIEZO1 Gene$690.00$2520.00

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