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Department of Clinical Studies - Philadelphia
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Section of Medical Genetics - PennGen
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Sever Combined Immunodeficiency

SCID DNA Test Submission Form

Description:
Immunodeficiency disorders are caused by defects in the host defense and immune response against microorganisms, resulting in increased susceptibility to infectious diseases. Primary immunodeficiencies also known as hereditary or congenital immunodeficiencies are genetically determined abnormalities in the morphology, maturation, and/or function of leukocytes (white blood cells) or the barrier system.

Primary immunodeficiency represent a large heterogeneous group of diseases. The Section of Medical Genetics has discovered and characterized several immunodeficiencies and has access to a variety of immunologic tests. For instance, severe x-chromosomal combined immunodeficiency (X-SCID, common gamma chain deficiency) has been characterized in the Basset and Welsh Corgi and a DNA test has been developed by the Section of Medical Genetics. This disease may also occur in other breeds.

Clinical Signs:
Recurrent and chronic protracted course of infection
Infection with common non-pathogenic or unusual infectious agents
Very severe and often atypical infectious disease presentation
Delayed, incomplete or lack of response to antimicrobial therapy
Juvenile onset, sometimes not recognized until adulthood
Growth failure, bleeding and allergy tendency

Affected Breeds:
Basset, Welsh Corgi, and possibly other

Required Samples:
EDTA Blood, 1-2 mL or
2 Buccal Swabs

Price: $75 each

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