ASERPST ft.s.yst.

CDFD

CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

(An autonomous Instute of the Degartment of Batechnoliogy, Mnistry of Scence &Technology Govt of lnda
fin n, TA, K- 500 039, d , MTa MC-5402
NABL ACCREDITATED
Inner Ring Road, Uppal, Hyderabad-500 039. Telangana, India.

MOLECULAR GENETICS LABORATORY

Name of the patient Prem Sagar Behera Age/sex 09 mon/M

Date of collection 02.04.24 Date of reporting 18.04 2024

Case ref no 857/24 Ref. By NIMS

NIMS no 331012400302811

Referral reason: SMA?

Report on Spinalmuscular atrophy

Methodology:
DNA was isolated from the blood and analy sed by MLPA (PO60-B2) SMA Probemix for exons 7and 8 in
SMNland SMN2 gene.
Interpretation:
SMNI(no. of copies) SMN2(no. of copies)
EXON 7 EXON 8 EXON 7 EXON 8
2
The patient is a case of Spinal Muscular Atrophy as the MLPA peak shows homozvgous deletion of
Eson 7 and Exon 8 in the SMNI gene

Counseling
pinal muncular atrophy i a degeneratse dscae uf the motor ncunms in the spnal cord causcd duc tv tutals in Ngene on
chnmome
\Mre than rot the cae havc homsgnn deletnts of teknetK cops of SM pene lhe remanng 1 cao e duc to pont
Imutatns

Ih lytane MPAlet detext deletits oen 7ndNin

muutar a p s ut a eatic rept dN NOT ruk
SM genc Ihus a paritnctet tepurt contirm the dianis of Spnal
the daass
rcqurcd te deteet thc ont mutatons mcacs whcte the mutation n M detccted h ths te
trcd Ggntss ounelng

S. Vasantha Dr Ashwin Dalal

HOD Diagnostics Division

Note Although all precautions have been taken during the test. the curently available data indicate that
the chances of technical error are 2-3°%.

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