Genes & Diseases - What we test for

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

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Disease

Code

Fur Further Information

JOHANSON-BLIZZARD SYNDROME

UBR1

JOUBERT SYNDROME 3

AHI1

JOUBERT SYNDROME 4

NPHP1

JOUBERT SYNDROME 5

CEP290

JOUBERT SYNDROME 6

TMEM67

JUVENILE AMYOTROPHIC LATERAL SCLEROSIS 2

ALS2

JUVENILE PRIMARY LATERAL SCLEROSIS

ALS2