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 NRXN1 This panel is performed via Next Generation Sequencing. |
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| 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: ARX FOXG1 ATRX SLC9A6 CDKL5 MECP2 TCF4 UBE3A OPHN1 PCDH19 |
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| 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. | |
| CPT Codes | 81479 | |
| Cost | $4500 | |
| 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. | |
Form Needed
Download NGS-2nd Tier Rett-Angelman req.pdf
Have Questions Need Support?
Contact our Laboratory Representative for assistance.
Kellie King, MS, CGC
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.