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.
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 
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 8-10 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 81479
Cost $4500

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.
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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