Porphyria, Acute Intermittent

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Porphyria, Acute Intermittent Hydroxymethylbilane Synthase, Included Pbgd Deficiency Porphobilinogen Deaminase Deficiency Porphyria, Acute Intermittent, Nonerythroid Variant, Included Porphyria, Swedish Type Ups Deficiency Uroporphyrinogen Synthase Deficiency	AIP HMBS HMBS PBGD UPS	176000	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
hydroxymethylbilane synthase porphobilinogen deaminase porphyria, acute; chester type uroporphyrinogen i synthase	HMBS PBGD PORC UPS	609806	4982

Specialties	Clinical Genetics Dermatology, Adult Dermatology, Paediatric Gastroenterology, Adult Gastroenterology, Paediatric

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Cardiff RGC	40	£400
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Urgent	Cardiff RGC	10	£400
Testing for known mutations in family members	Postnatal Diagnosis Routine	Cardiff RGC	20	£160
Testing for known mutations in family members	Postnatal Diagnosis Urgent	Cardiff RGC	5	£160

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