Androgen Insensitivity Syndrome

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Androgen Insensitivity Syndrome Androgen Receptor Deficiency Ar Deficiency Dhtr Deficiency Dihydrotestosterone Receptor Deficiency Testicular Feminization Syndrome	AIS TFM	300068	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
androgen receptor dihydrotestosterone receptor nuclear receptor subfamily 3, group c, member 4	AR AIS DHTR HUMARA NR3C4 SBMA SMAX1	313700	644

Specialties	Clinical Genetics Endocrinology, Adult Endocrinology, Paediatric Gynaecology

2 laboratories offer this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	Cambridge RGC	40	£415
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	Sheffield RGC	56	£300
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Urgent	Sheffield RGC	28	£450
Testing for known mutations in family members	Postnatal Diagnosis Routine	Cambridge RGC	10	£145 - £175
Testing for known mutations in family members	Postnatal Diagnosis Routine	Sheffield RGC	14	£105
Testing for known mutations in family members	Postnatal Diagnosis Urgent	Sheffield RGC	7	£157
Targeted copy number analysis	Postnatal Diagnosis Routine	Cambridge RGC	10	£175

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