Males with Borjeson-Forssman-Lehmann syndrome generally have characteristic facial features, hypogonadism, large ears, obesity, and varying degrees of learning disabilities and intellectual disabilities. Some individuals may also have short stature and seizures.
A number of females with skewed X-inactivation have been reported to manifest the typical findings seen in males. Female carriers with a random X-inactivation pattern may show very mild or subtle features.
|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.|
X-inactivation analysis is available in the Molecular Diagnostic Lab for females who are suspected to have an X-linked condition or who have been found to carry an x-linked mutation. PHF6 sequencing is also included as a part of the 92-gene X-Linked Intellectual Disability panel.
|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: 81479
Deletion/Duplication Analysis: 81229
|Cost||$1000 for sequencing
$350 for known mutation
$700 for deletion/duplication analysis
Prenatal diagnosis for a 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.