Additional information

Laboratory

Exult Diagnostics, Dr. Lal PathLabs

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FISH: TRISOMY 21 / DOWN SYNDROME, POSTNATAL

 3200

EX0712      FISH: TRISOMY 21 / DOWN SYNDROME, POSTNATAL
Specimen: 4 mL (2 mL min.) Whole blood from 1 Green Top (Sodium Heparin) tube. Ship at 18-22°C.
Stability:
Room Refrigerated Frozen
48 hrs NA NA
Method: FISH
Comment: Samples received on holidays will be reported in the next schedule / next working day.
Report: Contact us to know the TAT.
Usage: Down syndrome / Trisomy 21 is a genetic disorder with an extra copy of full or partial chromosome 21 resulting in developmental delays, distinct facial features & congenital defects. About 95% of cases are due to Trisomy 21; 2% result from Robertsonian translocation; 2% due to Mosaicism & 1% due to a variety of chromosomal rearrangements. This is a postnatal test conducted on individuals showing features of Down syndrome like hypotonia, small ears, upslanting palpebral fissures, flat facial profile, etc., or have a family history of Down syndrome.
Doctor Specialty: Pediatrician
Disease: Genetic Disorders
Components:
Courier Charges:
Home Collection: Available (*T&C Apply)
Department: CYTOGENETICS
Pre Test Information: A duly filled Chromosome & FISH analysis Requisition Form is mandatory.