Kallmann Syndrome 5 (CHD7) Sequencing

Disorder Kallmann syndrome (KAL5)
Gene Name CHD7
Clinical info Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia and includes both X-linked and autosomal forms. One autosomal form of Kallmann syndrome (KAL5) is caused by a mutation within the CHD7 gene at 8q12.1. CHD7 encodes the chromodomain helicase DNA-binding protein-7. A majority of cases of CHARGE syndrome are also caused by mutations within CHD7. KAL5, as well as normosmic idiopathic hypogonadotropic hypogonadism (IHH), are postulated to be mild allelic variants of CHARGE syndrome.
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 A mutation in CHD7 will be indentified in approximately 5% of patients with Kallmann syndrome 5.
Associated Tests 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 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: 81479

Known mutation: 81404

Deletion/Duplication Analysis: 81229
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.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

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.

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