Genetics Laboratories

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

Genetics Test Lookup

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 situhybridization (FISH) and chromosomal SNP (single nucleotide polymorphism) array. The results are reviewed and interpreted by board certified cytogeneticists.

Molecular Genetics Laboratory

Our Molecular Genetics Laboratory offers DNA analysis for diagnosis and carrier testing for metabolic and other genetic disorders. The DNA tests are performed by using an automated fluorescent DNA sequencer, PCR, MLPA and Next Generation Sequencing (NGS). 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

Cate Paschal, PhD, FACMG
Assistant Director of Cytogenetics and Molecular Genetics

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

James Bennett, MD, PhD, FACMG
Assistant Director of Molecular Genetics

Anna Scott, PhD
Biochemical Genetics

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.