GRISCELLI SYNDROME TYPE I (MYO5A) GENE SEQUENCING
Griscelli syndrome type I (GS1) is a rare autosomal recessive disorder caused by mutations in the MYO5A gene. This form of Griscelli syndrome is characterized by pigmentary abnormalities and neurological symptoms, without immune dysfunction or hemophagocytic lymphohistiocytosis (HLH), which are seen in GS2.
Also known asGriscelli Syndrome Type I (myo5a) Gene Sequencing Griscelli Syndrome Type I (myo5a) Gene Sequencing
Test details
Preparations
No special preparations needed
Test included
GRISCELLI SYNDROME TYPE I (MYO5A) GENE SEQUENCING includes 1 parameter
- Specimen
Test code
G697
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Others (fx) | Others | 2 ML |
Specimen stability information
Others (Fx)
Specimen rejection criteria
Test run frequency
Every Day TIME - 10:00
Turn around time
28 Working Days
Performing locations
Department
- Advanced Molecular Diagnostics R&d
CPT and Loinc codes
GRISCELLI SYNDROME TYPE I (MYO5A) GENE SEQUENCING
Package price
₹22000
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₹22000