Test ID: ME2KM
MECP2 Gene, Known Mutation
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
Useful For Suggests clinical disorders or settings where the test may be helpful
Diagnosis of Rett syndrome or other MECP2-related disorder for at-risk individuals with a family history of an identified MECP2 mutation
Carrier screening for females who are at risk of having an MECP2 mutation that was previously identified in a family member
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| FBC | 80333 | Fibroblast Culture for Genetic Test | Yes | No |
| FUSEQ | 82555 | DNA Sequence, Follow-up Analysis | No | No |
| ME2LD | 83282 | MECP2 Gene, Large Del/Dup | No | No |
| AFC | 80334 | Amniotic Fluid Culture/Genetic Test | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, either DNA sequencing follow-up analysis or MECP2 large deletion/duplication testing will be performed and charged dependent upon the type of mutation previously identified in the family.
Note: This testing algorithm only applies to prenatal testing.
If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
ME2KM/89285, FUSEQ/82555, ME2LD/83282: Fluorescent DNA Sequencing/Gene Dosage Analysis (Multiplex Ligation-Dependent Probe Amplification [MLPA])
FBC/80333, AFC/80334: Cell Culture
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
MECP2 Duplication Syndrome
Methyl-CpG-binding protein 2
Rett syndrome
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