Yale Department of Genetics, Clinical Genetics, Laboratory Services

Genetics Home

Our Department Faculty/Labs Graduate Program Medical Genetics Directory

Laboratory Services:

Biochemical Disease Detection.
Cytogenetics including molecular cytogenetics.
DNA Diagnostics.
All laboratory directors are certified by the American Board of Medical Genetics. Full service diagnostic laboratories. Fully certified by CAP, CLIA, and others. Samples are accepted from all over the world.

Biochemical Disease Detection Laboratory

* Amino acid analysis (HPLC)
* Total homocysteine (HPLC)
* Organic acid analysis (GC/MS)
* Carnitine and acylcarnitine profiles (Electrospray tandem MS)
* Screening for fatty acid oxidation disorders (urine acylglycine profile, blood carnitine and acylcarnitine profile, blood free fatty acid profile)

How to reach us:
Voice: 203-785-4938 • FAX: 203-785-3404
Margretta R. Seashore, MD

Cytogenetics including molecular cytogenetics

Cytogenetics Services at Yale University School of Medicine

DNA Diagnostics Laboratory

* Fragile X testing
* Adult polycystic kidney disease
* Duchenne and Becker muscular dystrophy
* Gorlin (nevoid basal cell carcinoma) syndrome
* Hemophilia A
* Medium chain acyl dehydrogenase deficiency
* Multiple endocrine neoplasia
* Ornithine transcarbamylase deficiency

How to reach us:
Allen E. Bale, MD, Director
Voice: 203-785-5745 • FAX: 203-785-7227


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