Hyperinsulinemic Hypoglycemia, Familial, 1

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Hyperinsulinemic Hypoglycemia, Familial, 1 Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia Hyperinsulinism, Congenital Hyperinsulinism, Familial, With Pancreatic Nesidioblastosis Hypoglycemia, Hyperinsulinemic, Of Infancy Nesidioblastosis Of Pancreas Persistent Hyperinsulinemic Hypoglycemia Of Infancy	HHF1 PHHI	256450	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
ATP-binding cassette, sub-family C, member 8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ATP-binding cassette, subfamily C, member 8 sulfonylurea receptor sulfonylurea receptor, beta-cell high-affinity sulphonylurea receptor sulphonylurea receptor, beta-cell high-affinity	ABCC8 HRINS	600509	59

Specialties	Endocrinology, Paediatric Metabolic Medicine, Paediatric Paediatrics

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 Note: ABCC8 1- 52, KCNJ11 exon 1	Postnatal Diagnosis Routine	Exeter RGC	56	£1000
Testing for known mutations in family members	Postnatal Diagnosis Routine	Exeter RGC	14	£100
Testing for known mutations in family members	Prenatal Diagnosis	Exeter RGC	3	£250
Targeted copy number analysis	Postnatal Diagnosis Routine	Exeter RGC	14	£100

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