CHARGE syndrome (MIM 214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene, which codes for chromodomain-helicase-DNA-binding protein 7.  The acronym CHARGE refers to coloboma of the eye (C), heart anomaly (H), choanal atresia (A), retardation of mental and somatic development (R), genital anomalies (G), and ear abnormalities (E).read more

Tests Available

By gene: CHD7
Next Generation Sequencing
Test Code: 2229
Deletion / Duplication
Test Code: 2230
NGS/Del Dup Comprehensive
Test Code: 2231

Test Details

Technical Information
Disease Groups: 
Cardiovascular Disorders
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81407 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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