Rett/Angelman Syndrome 2nd Tier Sequencing Panel
|Gene Names||ARX FOXG1 PNKP
ATRX MBD5 SLC2A1
CDKL5 MECP2 SLC9A6
CNTNAP2 MEF2C TCF4
EHMT1 OPHN1 UBE3A
FOLR1 PCDH19 ZEB2
This panel is performed via Next Generation Sequencing.
|Clinical info||Angelman and Rett syndromes are common genetic disorders that share many similar features,including developmental delay, intellectual disability and seizures. The genetic heterogeneity of these two syndromes and many similar disorders make it challenging to determine the appropriate second tier of testing once the most common causes of Rett and Angelman have been ruled out. Our expanded Rett/Angelman panel is designed to provide a cost-effective method for testing the genes believed to be of the highest diagnostic priority for individuals that fall into this clinical spectrum.|
|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.|
|Associated Tests||Several of these genes can be ordered as individual sequencing tests:
|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||3-4 months|
|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.|
Insurance billing is available for this test. The Insurance Billing Form is required along with copies of the authorization or letter of agreement from the insurance company.
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.