Mobile Site ›

Test Catalog

Test ID: ME2KM    
MECP2 Gene, Known Mutation

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


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 IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo
AFCAmniotic Fluid Culture/Genetic TestYesNo
MCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: 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. For any prenatal specimen that is received, maternal cell contamination studies will be added.

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

Fluorescent DNA Sequencing/Gene Dosage Analysis (Multiplex Ligation-Dependent Probe Amplification [MLPA]

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

MECP2 Gene, Known Mutation

Aliases Lists additional common names for a test, as an aid in searching

MECP2 Duplication Syndrome
Methyl-CpG-binding protein 2
Rett syndrome