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Department of Clinical Studies - Philadelphia
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Section of Medical Genetics - PennGen
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Metabolic Screening
Submission of Samples

The Metabolic Genetic Disease Testing Laboratory tests for suspected new hereditary disease in animals. Samples are tested free of charge, provided a complete submission form is submitted with the samples. Below are instructions for sample collection and shipment for the metabolic genetic screening program.

Urine

Urine samples (5-10ml) are submitted from a case suspected to have a genetic disease

Keep specimen in freezer until shipped.

It may be difficult to collect urine from neonates and small young animals. If only a few drop of urine can be obtained, apply it to a special filter paper (Whatman 3MM), allow to dry, and label one end of the filter paper with pencil. Urine on filter paper greatly limits our evaluation. Urine in liquid form should be submitted where possible.

Serum/Plasma (optional)

Serum or plasma samples (2-5ml separated from red blood cells) can be collected, and best kept frozen.

EDTA Blood for DNA

Blood in EDTA tubes (10ml) should be shipped overnight at room temperature. The tube should be protected from breakage. Also a control sample should be shipped.

Unstained Blood Smears

For suspected storage diseases.

Clinical Information

Provide patient’s name, age, breed and sex as well as owner and clinician’s name, address, and phone/fax. Please use the Metabolic Genetic Screening Submission Form (in Word97 format) where possible.

Clinical information such as family history, medications used, appearance of the animal, course of the disease, and complete laboratory and radiographic test results need to be included to process sample and to interpret results.

Shipment

Urine and serum samples should be sent, frozen on ice, by overnight mail to:

Dr. Giger
Metabolic Genetics Laboratory
Room 4027 VHUP
3900 Delancey Street
Philadelphia, PA 19104-6010

Phone (215) 573-7545
Fax (215) 573-2162
Email Penngen@vet.upenn.edu

We are offering this service free of charge provided a complete submission form arrives with the sample(s) to be tested. Analysis of samples takes at least three weeks from the time that they are received. For further information on special tests and sample submission, please contact Dr. Giger at (215) 898-8894

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