Genes & Diseases - What we test for

Home / Genes & Diseases What we test for

Search for a genetic condition by name or browse the categories below

| 1 | 3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Z

Disease

Code

Fur Further Information

BARTH SYNDROME

TAZ

BARTTER SYNDROME, ANTENATAL, TYPE 1

SLC12A1

BARTTER SYNDROME, ANTENATAL, TYPE 2

KCNJ1

BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF

HIBCH

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4

AMACR

BIOTINIDASE DEFICIENCY

BTD

BLOOM SYNDROME

BLM

BRITTLE CORNEA SYNDROME (EHLERS-DANLOS SYNDROME 6B)

ZNF469