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CLIA Certification, is it important?

What is CLIA Certification? CLIA [https://www.cms.gov/regulations-and-guidance/legislation/clia] (Clinical Laboratory Improvement Amendments) certification is a federal certification program that ensures the quality…

Grand rounds #3, Myotonic dystrophy 1 / DMPK repeat expansion

There was a male infant present with cryptorchidism and muscle weakness. Both parents of the child were unaffected, and there was no family history. The clinician…

Guide

How is genetic testing done?

There are several ways to perform genetic testing. The specific method used can depend on the type of genetic condition being tested for, the specific genes…

Insights

Whole Genome Sequencing cost 2023

The genetic testing industry has been growing rapidly over the past decade. The global Next-Generation Sequencing market is expected to reach USD 7.37 billion in…

Insights

What is Genetic Screening?

Genetic screening [https://www.genome.gov/genetics-glossary/Genetic-Screening] is a type of testing that is done to identify people who may be at increased risk for…

Why does the Whole exome sequencing cost variable?

Many customers have asked us at 3billion why the Whole exome sequencing cost is different. Whole exome sequencing (WES) [https://3billion.io/blog/how-does-wes-compare-to-traditional-methods/] is a…

Grand rounds #2, autosomal recessive Deafness 22 / OTOA Inversion

Patient G, a 5-year-old Korean boy, suffered from severe congenital non-syndromic bilateral sensorineural hearing loss (SHNL). In order to rule out the possibility of having progressive…

Grand rounds #1, type I Neurofibromatosis / NF1 intron case

Patient H was a 6-year-old Korean boy who was clinically suspected of having type I Neurofibromatosis. He presented with general symptoms of type 1 neurofibromatosis which…

Interview

Clinical geneticist interview: Dr. said

‘The Good Doctors’ is a programmed series of interviews to meet doctors who encounter patients with rare diseases every day and hear their stories. These interviews…

Life at 3billion

Reviewing 2022 Korean Society of Medical Genetics and Genomics (KSMG) Fall Meeting

The 64th Korean Society of Medical Genetics and Genomics (KSMG) meeting was held at the Kim Koo Museum & Library on November 10, 2022. The meeting started…

Posters

ASHG Posters 2022 from 3billion

You can see and download 3billion's 4 posters from American Society of Human Genetics (ASHG) 2022 in this page. (Poster Guidelines [https://www.ashg.org/meetings/…

Insights

WES WGS Panels: Which is the best NGS approach?

The rapidly decreasing cost and time required for next-generation sequencing (NGS) has expanded its application, particularly in the diagnosis of rare diseases. Annually, 250 gene-disease associations…

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