Genes & Diseases - What we test for
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Genetic Conditions
Search for a genetic condition by name or browse the categories below
Disease
Code
Fur Further Information
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
ABCA12
ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME
MBTPS2
ICHTHYOSIS, LAMELLAR, 1
TGM1
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
CLDN1
IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1
ORAI1
IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2
STIM1
IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON
CD3E
IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA
CD3G
IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA
CD3Z
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
CD40LG
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
DNMT3B
IMMUNODEFICIENCY, COMMON VARIABLE, 3
CD19
IMMUNODEFICIENCY, SEVERE COMBINED, 19
CD3D
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
FOXP3
INFANTILE NEUROAXONAL DYSTROPHY
PLA2G6
INFANTILE SIALIC ACID STORAGE DISORDER
SLC17A5
INFANTILE-ONSET SPINOCEREBELLAR ATAXIA
C10ORF2
INFERTILE MALE SYNDROME
AR
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
NTRK1
