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Laboratory

Exult Diagnostics, Dr. Lal PathLabs

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ANGELMAN SYNDROME

 7200

EX0115      ANGELMAN SYNDROME
Specimen: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. 
Stability:
Room Refrigerated Frozen
NA 1 week NA
Method: Methylation-specific PCR
Comment:
Report: Contact us to know the TAT.
Usage: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental genetic disorders that map to 15q11-q13. The primary phenotypes are attributable to the loss of expression of imprinted genes within this region which can arise by means of a number of mechanisms. The most sensitive single approach to diagnosing both PWS and AS is to study methylation patterns within 15q11-q13.
Doctor Specialty: Neurologist, Physician, Pediatrician
Disease: Neurologic Disorder
Components:
Courier Charges: 0.00
Home Collection: Available (*T&C Apply)
Department: MOLECULAR DIAGNOSTICS
Pre Test Information: A duly filled Genomics Clinical Information Requisition Form is mandatory.