CHARGE Syndrome

Show alternative names & symbols

Disorders	Symbol	MIM	Links
CHARGE Syndrome Charge Association - Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Abnormalities		214800	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
chromodomain helicase DNA-binding protein 7	CHD7 CRG	608892	20626

Gene dossier	Charge Syndrome Birmingham RGC

Testing criteria	Charge Syndrome

Specialties	Clinical Genetics

2 laboratories offer this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Testing for known mutations in family members	Postnatal Diagnosis Routine	Glasgow RGC	10	£140
Testing for known mutations in family members	Postnatal Diagnosis Routine	Birmingham RGC	28	£183
Testing for known mutations in family members	Prenatal Diagnosis	Birmingham RGC	3	£183
Testing for known mutations in family members	Prenatal Diagnosis	Glasgow RGC	5	£140
Targeted copy number analysis	Postnatal Diagnosis Routine	Birmingham RGC	28	£183
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Glasgow RGC	40	£525
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Birmingham RGC	56	£753