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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Diagnostic algorithm for congenital disorders of glycosylation

Diagnostic algorithm for congenital disorders of glycosylation
CDG: congenital disorders of glycosylation; WGS: whole-genome sequencing; WES: whole-exome sequencing; PMM2: phosphomannomutase 2; MPI: mannose phosphate isomerase.
* Infant or child with failure to thrive, hypotonia, developmental delay, and involvement of another organ system. Adult with static cerebellar signs, peripheral nervous system findings, history of stroke or bleeding abnormalities, and skeletal features. Known family history of CDG (in families with an identified molecular defect, genetic testing for the specific defect can be performed prenatally or postnatally).
¶ Preference for genetic testing is WGS > WES > gene panel sequencing, but the choice largely depends upon availability.
Δ The diagnosis is confirmed by molecular testing when biallelic pathogenic or likely pathogenic variants are identified in a recessive CDG-associated gene or X-linked CDG-associated gene in a female, or a single pathogenic variant is identified in an autosomal-dominant CDG-associated gene or X-linked CDG-associated gene in a male.
Graphic 130232 Version 1.0

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