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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Sex discordance, chimerism, and disorders of sexual development in monochorionic twins conceived with assisted reproductive technology

Authors: Seemann L, Misra G, Muralidharan K, Pike-Buchanan L, Forster KR, Peroutka C
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

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

Diagnosis of porphyrias by fractionated urine or plasma porphyrins: Experience at Biochemical Genetics Laboratory, Quest Diagnostics

Quest Diagnostics Authors: Lacbawan, F
Authors: Sharma R, Tanpaiboon P, Kucera C, Epstein BK, Taylor JC, Lobo R, Lacbawan FL, Salazar D
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics, Neurology

Retrospective Analysis of >25,000 Rare Disease Patients Confirms Biallelic Variants in the NRAP Gene are a Significant Cause of Dilated Cardiomyopathy [oral presentation]

Authors: 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: CAGC ACCG 2020: Canadian Association of Genetic Councellors Annual Education Conference. Virtual [in-person conference canceled], October 21 - 23, 2020

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics

A method to improve genetic diagnostic yield among patients suspected to have primary immunodeficiency

Authors: Davies C, Kokkonen P, Niskakoski A, Saarinen I, Sistonen J, Junnila H, Kere AK, Andreeskaya M, Muona M, Djupsjöbacka J, Koskinen L, Duzkale H, Jacher J, Myllykangas S, Koskenvuo J, Alastalo T-P
Event: CAGC ACCG 2020: Canadian Association of Genetic Councellors Annual Education Conference. Virtual [in-person conference canceled], October 21 - 23, 2020

Specialties: Genetics, Infectious Disease

Frequency and characteristics of copy number variants identified by a whole exome sequencing platform

Authors: Sluyters A, Gall K, Saarinen I, Hathaway J, Koskenvuo J, Alastalo T-P
Event: CAGC ACCG 2020: Canadian Association of Genetic Councellors Annual Education Conference. Virtual [in-person conference canceled], October 21 - 23, 2020

Specialties: Genetics

A New Clinical Exome Assay Developed for the High-Throughput Diagnosis of Genetic Conditions  

Authors: Alastalo TP, Sistonen J, Valori M, Siivonen P, Rantanen M, Muona M, Kytola V, Myllykangas S, Salmenperä P, Koskenvuo J
Event: CAGC ACCG 2020: Canadian Association of Genetic Councellors Annual Education Conference. Virtual [in-person conference canceled], October 21 - 23, 2020

Specialties: Genetics

Practical tool for coverage metrics standardization for disparate variant call outputs via NGS read depth statistics re-computation

Quest Diagnostics Authors: Bhattacharya, A, Elzinga, C, Gerasimova, A, Grupe, A, Lacbawan, F, Nguyen, Q, Rosenthal, SH
Authors: Gerasimova A, Bhattacharya A, Rosenthal S, Nguyen Q, Kazmierkiewicz K, Sunkara S, Elzinga C, Grupe A, Moler E, Lacbawan F
Event: Frontiers in Pediatric Genomic Medicine 2020. Virtual [in-person conference canceled], September 24-25, 2020

Specialties: Genetics, Oncology, Pediatrics

Evaluating diagnostic challenges with ABCA4-related retinal disease - experience with a 7500 IRD patient cohort sent for genetic diagnostics

Authors: Känsäkoski J, Kämpjärvi K, Tuupanen S, Wells K, Sarantaus L, von Nandelstadh P, Merkkiniemi K, Västinsalo H, Mårtensson E, Carro RP, Sankila E-M, Koskenvuo JW, Myllykangas S, Alastalo T-P
Event: ESHG 2020: European Human Genetics Virtual Conference. Virtual [in-person conference canceled], June 6 - 9, 2020

Specialties: Genetics

Distribution of mutations associated with congenital myasthenic syndromes (CMS): results from the first 54 specimens tested at a clinical reference laboratory

Quest Diagnostics Authors: Batish, SD, Datta, V, Lebron, F, Meservey, MA, Radcliff , J, Wang, Z
Authors: Batish SD, Wang Z, Lebron F, Meservey MA, Radcliff J, Datta V
Event: AAN 2020: American Academy of Neurology Annual meeting 2020 . Cancelled but abstracts are available online, April 25 - May 1, 2020

Specialties: Genetics, Neurology

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

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Prenatal Cell-Free DNA Screening for 22q11.2 Deletion Syndrome: Positive Predictive Value Estimates from a Large US Clinical Laboratory

Quest Diagnostics Authors: Alagia III, DP, Anderson, B, Guy, C, Lacbawan, F, Owen, R
Authors: Kahl K, Guy C, Karamata N, Owen R, Anderson B, Zhang K, Lacbawan FL, Alagia DP
Event: ACMG 2020: Annual Clinical Genetics Meeting. San Antonio, TX, March 17-21, 2020

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

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