CHARGE syndrome (CHD7) Sequencing
Kallmann syndrome (KAL5)
|Clinical info||CHARGE syndrome occurs in approximately 1 in 10,000 newborns. Individuals with CHARGE syndrome will exhibit some or all of the following features: coloboma, heart defect, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. One autosomal form of Kallmann syndrome (KAL5) is also caused by a mutation in CHD7.|
|Indications||Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.|
|Detection||CHD7 is the only gene known at this time to be associated with CHARGE syndrome. Sequencing of the gene will detect a mutation in approximately 60-65% of individuals with CHARGE syndrome.|
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.|
|Turnaround time||Sequencing: 6 weeks|
|Prenatal testing||Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.|
|CPT Codes||Unknown mutation
|Cost||$2400 for sequencing
$350 for known mutation
$700 for deletion/duplication analysis
Prenatal diagnosis for known mutation is $1000. Please contact the laboratory for more information.
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.