HHC RETT Syndrome Mutation RETT
Synonyms |
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Allscripts (AEHR) Order Name |
Not Orderable |
Sunrise Clinical Manager (SCM) Order Name |
RETT Syndrome Mutation |
EPIC Order Name |
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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 |
Container |
Lavender Top Tube |
Collection Instructions |
Container/ Tube: Two Lavender EDTA tubes |
Transport Instructions |
Room Temperature |
Specimen Stability |
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Methodology |
Next Generation Sequencing |
Days Performed |
Monday |
Performing Laboratory |
Quest Diagnostics Nichols Ins San Juan Capistrano,CA |
CPT |
81302 |
PDM |
145902008, 65237133 |
Result InterpretationSee Report |
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Forms |
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