CHARGE Syndrome

Laboratories

2 laboratories offer this test:

Search filters
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 Birmingham RGC 56 £850
Sequencing of the entire coding region of gene (s) PLUS copy number analysis Postnatal Diagnosis Routine Glasgow RGC 56 £525
Testing for known mutations in family members Prenatal Diagnosis Birmingham RGC 3 £183
Testing for known mutations in family members Postnatal Diagnosis Routine Birmingham RGC 28 £183
Testing for known mutations in family members Prenatal Diagnosis Glasgow RGC 3 £210
Testing for known mutations in family members Postnatal Diagnosis Routine Glasgow RGC 28 £140
Testing for known mutations in family members Postnatal Diagnosis Urgent Glasgow RGC 14 £210
Targeted copy number analysis Postnatal Diagnosis Routine Birmingham RGC 28 £183

Genes & Disorders

Show alternative names & symbols

Disorders Symbol MIM Links
  • CHARGE Syndrome
    • Charge Association - Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Abnormalities
Genes Symbol MIM HGNC Links
  • chromodomain helicase DNA-binding protein 7
  • CHD7
    • CRG

Testing Criteria & Gene Dossiers

Testing criteria
Gene dossier

Specialties

Specialties
  • Clinical Genetics
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