Test

Molecular Genetics Acute intermittent porphyria - HMBS gene analysis-NGS

₹52,000 ₹35,999
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Also Known As

HMBS Gene NGS Analysis, Acute Intermittent Porphyria Genetic Test, PBGD Gene Sequencing, Porphobilinogen Deaminase Gene Analysis, AIP Molecular Diagno... Read more

Test Parameters Included

HMBS Gene Sequence Variants Detected by NGS (c. and p. nomenclature)Pathologist Clinical Genetics Remark - pathogenicity classification per ACMG guide... Read more

Department

MOLECULAR GENETICS

Methodology

NGS

Sample Required

WB EDTA

Preparation

For a molecular genetics test to diagnose Acute Intermittent Porphyria (AIP) by analyzing the HMBS gene using Next-Generation Sequencing (NGS), fastin... Read more

Schedule Report

28 Days

Emergency Report

Yes

Frequently Asked Questions

What is Acute Intermittent Porphyria (AIP)?AIP is a rare autosomal dominant disorder caused by deficiency of porphobilinogen deaminase (PBGD), the enz... Read more

Test Description

Molecular Genetics Acute Intermittent Porphyria - HMBS Gene Analysis-NGS Examination A molecular genetics test for Acute Intermittent Porphyria (AIP)... Read more

Test Code

MOG226

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