Linked from

The 107 pages that link to Genetic testing, each with the reason it gives.

• Primary familial brain calcificationRelated: Testing can confirm a molecular cause and inform family counseling.

• Rothmund–Thomson syndromeRelated: Testing RECQL4 and ANAPC1 can confirm the diagnosis and distinguish genetic forms.

• Sanfilippo syndromeRelated: Testing can confirm the subtype by finding pathogenic variants in the relevant gene.

• Stargardt diseaseRelated: It can confirm ABCA4-related disease and clarify inheritance for families.

• Treacher Collins syndromeRelated: Testing can confirm a suspected diagnosis and clarify inheritance and recurrence risk.

• Uncombable hair syndromeRelated: Testing can help confirm a suspected inherited hair-shaft disorder.

• XY gonadal dysgenesisRelated: Testing can identify a molecular cause in some cases and inform family counseling.