CHARGE Syndrome, CHD7 Sequencing
Ordering Recommendation

Recommended test to confirm a clinical diagnosis or suspected diagnosis of CHARGE syndrome.

Polymerase Chain Reaction/Sequencing
28-35 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for CHARGE Syndrome (CHD7) Sequencing:
Characteristics: CHARGE is an acronym for the major features of the condition, which are Coloboma, Heart defects, choanal Atresia, Restricted growth and delayed development, Genital abnormalities and Ear anomalies. This condition has a highly variable presentation.
Incidence: About 1 in 10,000.
Inheritance: Autosomal dominant.
Cause: Pathogenic CHD7 gene mutations.
Clinical Sensitivity: Approximately 90 percent for individuals fulfilling clinical criteria for CHARGE.
Methodology: Bidirectional sequencing of all coding regions and intron-exon boundaries of the CHD7 gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations and large deletions/duplications in CHD7 will not be detected.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
Component Test Code*Component Chart NameLOINC
2012610CHD7 FGS Sequencing Specimen
2012611CHD7 FGS Sequencing Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.