HHC RETT Syndrome Mutation RETT

Synonyms
Allscripts (AEHR) Order Name	Not Orderable
Sunrise Clinical Manager (SCM) Order Name	RETT Syndrome Mutation
EPIC Order Name
Clinical Info	Sequence analysis of the entire amino acid coding region (exons 1-4) and splice junction sites of the MECP2 gene will detect disease causing variants in approximately 80% Of individuals with classic Rett Syndrome. This test will establish a clinical diagnosis of Rett Syndrome in females. This test will also establish the etiology of severe neonatal encephalopathy in males.
Specimen Type	Blood
Specimen Volume	5mL whole blood (3 mL min)
Container	Lavender Top Tube
Collection Instructions	Container/ Tube: Two Lavender EDTA tubes Specimen: 5mL whole blood (3 mL min) Alternative Specimen(s) Chorionic villi or Chorionic villus sampling or Cultured Amniocytes or Cultured cells from Amniotic fluid or Cultured cells (confluent) or Cultured cells from CVS or Cultured Chorionic Villi collected in two (x2) of separate T-25 Flask • 5 mL amniotic fluid collected in Flasks Minimum Volume 2 mL amniotic fluid Transport Temperature: Room Temperature Stability: Whole blood (preferred) Room temperature: 14 days Refrigerated: 14 days Frozen: Unacceptable Chorionic villi or cultured cells Room temperature: 48 hours Refrigerated: Unacceptable Frozen: Unacceptable Amniotic fluid Room temperature: 8 days Refrigerated: 8 days Note: collect from two lavender top tubes
Transport Instructions	Room Temperature
Specimen Stability	Whole blood (preferred) Room temperature: 14 days Refrigerated: 14 days Frozen: Unacceptable Chorionic villi or cultured cells Room temperature: 48 hours Refrigerated: Unacceptable Frozen: Unacceptable
Methodology	Next Generation Sequencing
Days Performed	Monday TAT: 12 - 16 Days
Performing Laboratories	Quest Diagnostics Nichols Ins San Juan Capistrano,CA
CPT	81302 LOINC Code: 35137-9 TAT 14 - 21 Days
PDM	145902008, 65237133
Result Interpretation See Report This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
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