FISH: PRADER WILLI SYNDROME / SNRPN

227 Ratings

Rs 8,512 Rs 6,400

25 % OFF

PRADER-WILLI SYNDROME (PWS) IS A GENETIC DISORDER CAUSED BY LOSS OF FUNCTION OF SPECIFIC GENES ON PROXIMAL ARM OF CHROMOSOME 15. MOST CASES (99%) ARE CAUSED BY ABSENCE OF A PATERNAL CONTRIBUTION TO THE IMPRINTED REGION ON CHROMOSOME 15Q11-Q13; APPROXIMATELY 70% OF THESE ARE DUE TO A LARGE 5-7 MB DELETION. THESE PATIENTS ARE CONSTANTLY HUNGRY (HYPERPHAGIA) & BECOME OBESE. THEY HAVE BEHAVIOURAL, COGNITIVE & SLEEP IMPAIRMENT AND UNDERDEVELOPED SEX ORGANS.

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5 ML (3 ML MIN.) WHOLE BLOOD FROM 1 GREEN TOP (SODIUM HEPARIN) TUBE. SHIP AT 18-22 C. DO NOT FREEZE.

FISH

REPORT ON 12TH DAY EVENING 7PM

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