Number of Alleles Tested: 135

Condition

Gene(s)

Acute Respiratory Distress Syndrome

ANLN

Bernard-Soulier Syndrome Type C

GP9

C3 Deficiency

C3

Cardiomyopathy

YARS2

Ciliary Dyskinesia 1, 2

CCDC39, NME5

Colorectal Hamartomatous Polyposis and Ganglioneuromatosis

PTEN

Congenital Dyshormonogenic Hypothyroidism

SLC5A5

Copper Toxicosis

COMMD1

Cushing’s Syndrome 1-6

GNAS

Cyclic Neutropenia

AP3B1

Cystinuria Type IA

SLC3A1

Cystinuria Type IIA 1, 2

SLC3A1

Cystinuria Type IIB

SLC7A9

Demyelinating Peripheral Neuropathy

SBF2

Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis

INPP5E

Dilated Cardiomyopathy

PLN

Elliptocytosis

SPTB

Exercise Induced Metabolic Myopathy

ACADVL

Factor VII Deficiency

F7

Factor XI Deficiency

F11

Fanconi Syndrome

FAN1

Fatal Neonatal Interstitial Lung Disease

LAMP3

Gallbladder Mucoceles

ABCB4

Gastrointestinal Stromal Tumors 1-6

KIT

Glycogen Storage Disease Ia

G6PC

Glycogen Storage Disease IIIa

AGL

Glycogen Storage Disease VII 1, 2

PFKM

Hemophilia A 1-5

F8

Hemophilia B 1-7

F9

Hepatic Copper Toxicosis

ATP7B

Hereditary Nephritis

COL4A5

Hereditary Methemoglobinemia 1, 2

CYB5R3

Hereditary Nephropathy 1-3

COL4A4, COL4A5

Hypocatalasia

CAT

Hypothyroidism 1-4

TPO

Inflammatory Pulmonary Disease

AKNA

Intestinal Cobalamin Malabsorption

AMN

Invasive Transitional Cell Carcinoma

BRAF

Laryngeal Paralysis Risk Factor

RAPGEF6

Lethal Acrodermatitis

MKLN1

Leukocyte Adhesion Deficiency

FERMT3

Leukocyte Adhesion Deficiency Type I

ITGB2

Ligneous Membranitis

PLG

Lundehund Syndrome

LEPREL1

Malignant Hyperthermia

RYR1

May-Hegglin Anomaly

MYH9

Mucopolysaccharidosis Type I

IDUA

Mucopolysaccharidosis Type VI 1, 2

ARSB

Myeloperoxidase Deficiency

MPO

Myotubular Myopathy 1, 2

MTM1

Obesity and Food Motivation

POMC

Oculocutaneous Albinism Type IV 1-3

SLC45A2

Pancreatitis Variant 1-3

SPINK1

Periodic Fever Syndrome 1,2

HAS2, MTBP

Pituitary Dwarfism

LHX3

Polycystic Kidney Disease

PKD1

Pompe Disease

GAA

Postoperative Hemorrhage

P2RY12

Prekallikrein Deficiency

KLKB1

Primary Hyperoxaluria

AGXT

Primary Polycythemia 1

JAK2

Protection Against Liver Copper Accumulation

ATP7A

Pyruvate Dehydrogenase Deficiency

PDP1

Pyruvate Kinase Deficiency of Erythrocyte 1-6

PKLR

Renal Cystadenocarcinoma

FLCN

Scott Syndrome

ANO6

Selective Cobalamin Malabsorption 1-3

CUBN

Severe Combined Immunodeficiency Disease 1,2

PRKDC, RAG1

Squamous Cell Carcinoma

KITLG

Thrombasthenia 1-3

ITGA2B

Thrombocytopenia 1, 2

TUBB1

Thrombopathia 1-3

RASGRP1

Trapped Neutrophil Syndrome

VPS13B

Upper Airway Syndrome

ADAMTS3

Urolithiasis

SLC2A9

Vitamin D Deficiency Rickets Type II

VDR

Von Willebrand Disease Type I

VWF

Von Willebrand Disease Type II 1, 2

VWF

Von Willebrand Disease Type III 1-3

VWF

X-linked Severe Combined Immunodeficiency 1, 2

IL2RG