Conference Presentations by Medical Specialty - Genetics

Below is a listing of recent posters and presentations by Quest Diagnostics medical and scientific staff.

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Prenatal Theoretical Diagnostic Yield of a Rapid, Targeted Genetic Panel Designed for Critically Ill Pediatric Patients

Quest Diagnostics Authors: Hahn, S, Kucera, CR, Mullen, T, Stachiw-Hietpas, DL, Tanpaiboon, P, Witherington, SE
Authors: Stachiw-Hietpas DL, Kucera CR, Partack EJ, Witherington SE, Hahn SE, Tanpaiboon P, Mullen TE
Event: 2021: Wisconsin Genetic Counselors Association Annual Education Conference . Virtual [in-person conference canceled], April 30, 2021

Specialties: Genetics, Women's Health/OB/GYN

Diagnostic efficacy of next-generation sequencing panel tests in the diagnosis of inherited bone marrow failure syndromes

Authors: Scocchia A, Kokkonen P, Hirvonen E, Mårtensson E, Duzkale H, Gall K, Jacher J, Saarinen I, Sistonen J, Koskenvuo J, Koskinen L, Alastalo T-P
Event: CIS 2021: Clinical Immunology Society Meeting. Virtual [in-person conference canceled], April 14 - 17, 2021

Specialties: Genetics

Retrospective review of mitochondrial genome analysis in over 7000 cases using clinical grade mtDNA sequencing

Authors: Schleit J, Valori M, Kytölä V, Siivonen P, Salmenperä P, Gentile M, Sistonen J, Tallila J, Liaquat K, Koskenvuo J, Alastalo T-P, Isokallio M
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Diagnostic Yield and Clinical Utility of Genetic Testing in Children with Seizure Onset After 2 Years of Age: An Update

Authors: Liaquat K, Gall K, Izzo E, Singh A, Alakurtti K, Seppala EH, Koskinen L, Koskenvuo J, Alastalo T-P
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Next-Generation Sequencing Panels for Hereditary Hearing Loss Testing With Approaches for Difficult-to-Sequence Regions

Authors: Gall K, Tuupanen S, Sarantaus L, Gandia M, Duzkale H, Saarinen I, Sistonen J, Koskenvuo J, Alastalo T-P
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Novel BCL11A variant Arg3Cys in a patient with intellectual disability and persistence of fetal Hb

Authors: Muskett J, Nimrichter S, Zori R, Wang Z
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Retrospective review of genetic testing for inherited bone marrow failure syndromes

Authors: Jacher J, Scocchia A, Kokkonen P, Hirvonen E, Mårtensson E, Duzkale H, Gall K,  Powis Z, Saarinen I, Sistonen J,  Koskenvuo J,  Koskinen L,  Alastalo T-P
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics

Biallelic NRAP Variants are a Significant Cause of Dilated Cardiomyopathy

Authors: Gall K, Koskenvuo J, Saarinen I, Ahonen S, Tommiska J, Weckström S, Seppälä EH, Tuupanen S, Kangas-Kontio T, Schleit J, Heliö K, Hathaway J, Gummesson A, Dahlberg P, Ojala T, Vepsäläinen V, Kytölä V, Muona M, Sistonen J, Salmenperä P, Gentile M, Paananen J, Myllykangas S, Alastalo T-P, Heliö T
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics

A Web-Based Educational Program to Support the Updated ACMG/ClinGen Technical Standards for Constitutional Copy Number Variant Classification

Authors: Riggs ER, Good M, Andersen EF, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, and Martin CL
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics

Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

Authors: Powis Z, Hayes H, Hamm JA, Putnam AM, Basaran R
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology