MOLECULAR STUDY SINDROME RETT (GEN MECP2) SEQUENCING AND MLPA, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4191

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing / Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Plazo de Entrega:	45 days
Information:
Rett syndrome is a progressive neurological disorder in which individuals exhibit reduced muscle tone, autistic-like behavior, microcephaly, wringing and flapping hand movements, loss of purposeful use of the hands, diminished ability to express feelings, avoidance of eye contact, a lag in brain and head growth, gait abnormalities, and seizures. Symptoms occur between ages 6 and 18 months. Sequencing of exons 2, 3, and 4 in the MECP2 gene detects approximately 80% of patients with Rett syndrome. Deletion analysis detects an additional 10-12% not detectable by routine sequencing analysis.
Links:
Orphanet- Rett syndrome
RETT SYNDROME; RTT - OMIM Result
METHYL-CpG-BINDING PROTEIN 2; MECP2 - OMIM Result

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