Cystic Megalencephaly (MLC1) Gene Analysis
Test Name: Cystic Megalencephaly (MLC1) Gene Analysis
Clinical Overview:
Cystic megalencephaly, also known as Megalencephalic Leukoencephalopathy with subcortical cysts (MLC), is a rare inherited neurological disorder characterized by enlarged head size (macrocephaly), progressive white-matter abnormalities, and subcortical cysts in the brain. It is most commonly associated with pathogenic variants in the MLC1 gene.
Purpose of the Test:
MLC1 gene analysis detects disease-causing genetic variants associated with MLC. The test can help confirm a suspected diagnosis, support clinical evaluation, and assist with genetic counselling and family assessment.
Sample Type:
Peripheral blood / EDTA whole blood
Method:
Molecular genetic analysis, typically involving sequencing of the MLC1 gene. Depending on the laboratory's test design, deletion/duplication analysis may also be performed when indicated.
When Is It Recommended?
- Unexplained macrocephaly in infancy or childhood
- Suspected MLC based on neurological findings or brain MRI
- Progressive white-matter changes with subcortical cysts
- Seizures, ataxia, or developmental/neurological abnormalities suggestive of MLC
- Family history of a suspected inherited neurological disorder
Interpretation:
A pathogenic or likely pathogenic variant in MLC1, particularly in an appropriate clinical and MRI context, can support a diagnosis of MLC. A negative result does not completely exclude the condition, as variants may occur in other genes or may not be detected by the specific testing method.
Clinical Significance:
Genetic confirmation may help establish the underlying cause, guide genetic counselling, facilitate family testing, and provide information relevant to recurrence-risk assessment.
Note:
Results should be interpreted together with clinical findings, neurological evaluation, and brain MRI by a qualified healthcare professional or genetic counsellor.
