Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy: Bench to Bedside Diagnosis

Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy: Bench to Bedside Diagnosis

Spinal muscular atrophy (SMA) is a rare, recessively inherited neurodegenerative disorder caused by the presence of pathogenic variants in the SMN gene. As it is the leading inherited cause of infant mortality, identification of SMN gene pathogenic variant carriers is important for diagnostic purpos...

Full description

Bibliographic Details
Main Authors: Gulten Tuncel, Burcin Sanlıdag, Eray Dirik, Tugba Baris, Mahmut Cerkez Ergoren, Sehime Gulsun Temel
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2023-09-01
Series:Global Medical Genetics
Subjects:
SMA
SMN1
MLPA
sequencing
in-house testing
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1774307

Internet

http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1774307

Similar Items