This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.
We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.
2-2 (Homozygous Disease Variant)
Unhealthy (Affected)
Homozygous Affecteds (2-2) are expected to develop signs consistent with Whole Genome Sequencing and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous)
Healthy (Carrier)
Heterozygous Carriers (1-2) are not expected to develop signs of Whole Genome Sequencing but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal)
Healthy (Normal, Clear)
Homozygous Normals (1-1) are not expected to develop signs of Whole Genome Sequencing and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.