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CHARGE Syndrome (CHD7) Sequencing, Fetal
2012717
Ordering Recommendation

Prenatal test for fetuses with ultrasound findings suggestive of CHARGE syndrome, or for individuals who had a previous child with CHARGE syndrome, but do not know the specific mutation.

Mnemonic
CHD7 FE
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Sun-Sat
Reported
14-21 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Cultured Amniocytes: Four T-25 flasks at 80 percent confluent cultured amniocytes. If the client is unable to culture amniocytes, this can be arranged by contacting Client Services at (800) 522-2787. 
Or Amniotic Fluid
: Amniotic fluid submissions will require cultured amniocytes (Order Amniocyte Culture, Four Flask).
AND Maternal Whole Blood: Lavender (K2EDTA), Lavender (K3EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B). 
Specimen Preparation
Cultured Amniocytes: Fill flask with culture media. Transport four T-25 flasks at 80 percent confluent of culture amniocytes filled with culture media.
Amniotic Fluid
: Transport 10 mL unspun fluid (Min: 5 mL)
Maternal Whole Blood
: Transport 3 mL whole blood (Min: 1 mL) 
Storage/Transport Temperature
Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Amniotic Fluid:
Room temperature.
Maternal Whole Blood:
Room temperature. 
Unacceptable Conditions
Plasma or serum. 
Remarks
 
Stability
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood:
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for Charge Syndrome (CHD7) Sequencing, Fetal:
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, 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 fetuses 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.

For quality assurance purposes, ARUP Laboratories will confirm the result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Maternal sample is recommended for proper test interpretation.
CPT Code(s)
81407; 81265
Components
Component Test Code*Component Chart NameLOINC
0050548Maternal Contamination Study Fetal Spec31208-2
0050612Maternal Contam Study, Maternal Spec31208-2
2012718CHD7 FE Sequencing, Specimen31208-2
2012719CHD7 FE Sequencing, Interpretation42240-2
* 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.
Aliases