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Genetics Laboratories

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Who We Are

For over 40 years, Seattle Children’s has been providing comprehensive genetic testing and consultative services to healthcare providers and families in the Washington, Wyoming, Alaska, Montana and Idaho (WWAMI) region. Our genetics laboratories consist of biochemical genetics, molecular genetics, cytogenetics and a research and development laboratory dedicated to bringing the most current and specialized research tests into the clinical arena using tandem mass spectrometry and microarray technology.

Together with our in-house clinical specialists in genetics, metabolic disease and pathology, we can provide thorough testing interpretation and guidance that is relevant to your patient.

We provide direct support to and clinical services in our Biochemical Genetics and Medical Genetics clinics.

To make an appointment, call:

  • Biochemical Genetics Clinic: 206-987-3012, option 1 for scheduling
  • Medical Genetics Clinic: 206-987-2056, option 1 for scheduling

Biochemical Genetics Laboratory

Our Biochemical Genetics Laboratory performs a variety of analyses using gas chromatography/mass spectroscopy (GC/MS), high performance liquid chromatography (HPLC), tandem mass spectrometry (MS/MS) and enzyme analyses in various tissues for the diagnosis and monitoring of patients with inborn errors of metabolism. Our biochemical genetic specialists provide comprehensive interpretation of test results and recommendations about medical follow-up and/or further testing.

Cytogenetics Laboratory

Our Cytogenetics Laboratory offers comprehensive chromosomal analysis on peripheral blood, skin biopsies, products of conception, bone marrow and malignant tissues. Molecular cytogenetic analyses are offered using fluorescence in situ hybridization (FISH) and DNA Microarray Comparative Genomic Hybridization (aCGH). The results are reviewed and interpreted by board certified cytogeneticists.

Molecular Genetics Laboratory

Our Molecular Genetics Laboratory offers DNA analysis for diagnosis, carrier testing and prenatal testing for metabolic and other genetic disorders. The DNA tests are performed by using an automated fluorescent DNA sequencer, multiplex analysis by Luminex, PCR, MLPA and Southern blot. Comprehensive interpretation is provided by highly experienced and certified geneticists and genetic counselors.

All our laboratories are dedicated to developing new tests and implementing advances in methodologies. Our interdisciplinary group includes laboratory scientists, clinicians and a genetic counselor, and has a mission to provide the highest quality of tests for the diagnosis and care of patients with genetic conditions.

Laboratory Leadership

Sihoun Hahn, MD, PhD, FACMG
Director, Biochemical Genetics, Molecular Genetics

Rhona Jack, PhD
Clinical Chemist, Biochemical Genetics

Kent Opheim, PhD, FACMG
Clinical Cytogenetics

Karen Tsuchiya, MD, DABMG
Clinical Cytogenetics

Shihui Yu, MD
Clinical Cytogenetics

Licensure and Accreditation

We also participate in the European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism (ERNDIM). This program monitors the performance of laboratories in the field of inborn errors of metabolism.

 

 
 

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What's new?

NEW RETT SYNDROME TEST PANEL:

Sequencing of MECP2, CDKL5 and FOXG1
MECP2 deletion/duplication