Genetic Clinics
Volume 15 | Issue 2 | April to June 2022
GeNeDit
April to June 2022| Vol 15 | Issue 2 | Page No 01
NGS - From the Womb to the Tomb
Deoxyribonucleic acid (DNA) molecules inside each nucleus of a living cell are the musical instruments of the orchestra of life. The loss of any key of an accordion or breaking of a string of a sitar can disturb the melody of life. Now we have the technology to detect defects in any of the 3 billion keys as easily as looking at the facial...
Dr. Shubha Phadke
Clinical Vignette
April to June 2022| Vol 15 | Issue 2 | Page No 02-05
Carrier Screening in the Current Era: A Report Depicting its Utility and Challenges
Reproductive carrier screening is a genetic test which is offered to healthy individuals or couples who either have a history of a previous child suspected with a genetic condition or are planning a pregnancy. It is carried out to identify...
Aashita Takkar, Veronica Arora, Swasti Pal, Renu Saxena
Clinical Vignette
April to June 2022| Vol 15 | Issue 2 | Page No 06-10
An A Novel Loss-of-Function Variant in SETBP1 Causing Autosomal Dominant Mental Retardation 29 in an Asian Indian Male Child
Heterozygous gain-of-function variants in the SETBP1 gene are known to cause Schinzel-Giedion syndrome, a multiple malformation condition with typical facial dysmorphism. Heterozygous, loss-of-function variants in the same gene have...
Asodu Sandeep Sarma1, Shivangi Wagh1, Ashwin Dalal1, Prajnya Ranganath1,2
GeNeViSTA
April to June 2022| Vol 15 | Issue 2 | Page No 11-18
Low-Pass Genome Sequencing: A Good Option for Detecting Copy Number Variations
Low-pass genome sequencing (LPGS) is a technique to detect copy number variants and map their breakpoints by using the technology of next-generation sequencing (NGS). Cytogenetic microarray (CMA) has a high resolution but is..
Somya Srivastava, Shubha R Phadke
GeNeXprESS
April to June 2022| Vol 15 | Issue 2 | Page No 19-20
Advancements in Genomic Diagnoses
The etiological diagnosis of sudden death is important for cascade testing of the relatives and preventive actions in individuals identified to be susceptible to sudden death. Molecular autopsy by next-generation sequencing (NGS) of...
Arya Shambhavi
