Current Diagnosis of Bleeding Disorders in Lower Income Countries.

There have been considerable advances in diagnosing and treating bleeding disorders. But the scenario remains dismal in resource-constrained settings in low and lower-middle-income countries (LMICs). Seventy-five percent of the patients with inherited bleeding disorders do not get diagnosed in LMICs.

Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns.

Background: Oftentimes, a variation at the multiplex ligation-dependent probe amplification (MLPA) probe binding site leads to improper hybridrization/ligation of the probe showing up as a deletion of an exon leading to false positive results for the detection of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD).

Objective: Investigating cases with single exon deletion using an alternate method [polymerase chain reaction (PCR) or sequencing] for confirmation of the deletion.

Methods: We evaluated males with single exon deletion (n = 49) in our study population (2015-2019).

Next generation sequencing in lung cancer: An initial experience from India.

Introduction: Approximately 35% of NSCLC patients in East Asia have EGFR mutations. Next-generation sequencing (NGS) provides a comprehensive mutational profile in lung cancer patients.

Material And Method: Clinicopathologic characteristics and mutational profiling data was analyzed from nonsmall cell lung carcinoma /Adenocarcinoma over a duration of 42 months (October 2014 to March 2018) using next-generation sequencing Ion Ampliseq Cancer Hotspot panel v2 (Ampliseq, Life Technologies) on the Ion torrent PGM platform.

MYD88 and CXCR4 Mutation Profiling in Lymphoplasmacytic Lymphoma/Waldenstrom's Macroglobulinaemia.

Recurrent mutations affecting MYD88 and CXCR4 gene nowadays form the basis for the diagnosis, risk stratification and use of inhibitors targeting these signalling pathways in LPL/WM which are rare B cell neoplasms. MYD88 L265P mutation analysis was performed on 33 cases of LPL/WM by AS-PCR (positivity-84.8%, n = 28/33) and by Sanger sequencing (positivity-39.

A novel CFTR gene variant - p.Tyr517* associated with cystic fibrosis: a case report.

Introduction: Cystic fibrosis (CF) is a genetic disease usually diagnosed by clinical findings and abnormal sweat chloride testing.

Case Report: We report a case of an 18-month-old Indian female with clinical findings suggestive of CF referred for genetic confirmation. The CFTR gene was sequenced for 23 mutations as per American College of Medical Genetics (ACMG) guidelines for CF and showed presence of a known common heterozygous delF508 (c.

Small cell medullary thyroid carcinoma: A diagnostic dilemma.

Small cell variant of medullary thyroid carcinoma (MTC) is a rare variant. In the past, primary thyroid lymphomas were thought to be small cell MTC (SCMTC). However, with the advent of immunohistochemistry, it was realized that SCMTC is rare.