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edta
ईडीटीए
Son Güncelleme: 2013-06-12
Kullanım Sıklığı: 1
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edta k3 ka pura nam hindi m
edta k3 का पुरा नाम हिंदी एम
Son Güncelleme: 2021-03-17
Kullanım Sıklığı: 1
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dna test report– medgenome laboratories patient and order details order id : 840273 order date : 25-01-2024 date of report : 10-02-2024 full name age/gender sample id sample type collected on received on hitesh odidera 19y/male 8318487 peripheral blood in edta 20-01-2024 23-01-2024 referring clinician : dr. jacky ganguly, institute of neurosciences, (kolkata) requested test : additional family member (investigational) testing - 1 variant (mgm277) clinical diagnosis / symptoms / history the index patient, khunti ranabhai k, born of a non-consanguineous marriage, presented with clinical indications of slowly progressive neck jerks (since 8 years of age), hand jerks while writing and holding objects, myoclonus, dystonia, telangiectasia and anxiety. there is a profound family history of similar complaints in his with multiple affected individuals. mr. khunti ranabhai k. is suspected to be affected with myoclonus dystonia syndrome. khunti ranabhai k was found to harbour a heterozygous variant of uncertain significance, c.1796_1798dup in the ano3 gene. cousin of the index patient is being evaluated for the same variant. result summary analysis for the variant detected by next generation sequencing in the ano3 gene of index patient, khunti ranabhai k (sample id:8185923) name : hitesh odidera/male/19y relationship to the index patient : cousin sample id : 8318487 gene name exon / intron variant reported in the index patient variant detected in family member* clinical condition of family member ano3 exon 17 chr11:g.26599674_26599676du p; c.1796_1798dup (het); (p.ala599dup) present & heterozygous symptomatic * the variant analysis in sanger sequencing is based on the ano3 gene reference sequences enst00000256737.8 (grch38) [1]. the exon number and nucleotide numbers will differ based on the reference file chosen and the database used. interpretation a heterozygous 3 base pair insertion in exon 17 of the ano3 gene [chr11:g.26599674_26599676dup; c.1796_1798dup; (p.ala599dup)] was detected in the index patient by ngs (sample id: 8185923; repo
Son Güncelleme: 2024-02-11
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