Medical Genetics Test Details
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PTPN11 - Related Disorders tests available.
PTPN11-Related Disorders | PTPN11-Related LEOPARD Syndrome | PTPN11-Related Noonan Syndrome | Noonan Syndrome 1 | Cardiomyopathic Lentiginosis | Multiple Lentigines Syndrome
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Diagnostic Testing | Familial Mutation/Variant Analysis | Mutation Testing General Population | Prenatal Diagnosis | Presymptomatic Testing | |
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Sequence Analysis |
![]() Test Code: 6065 Noonan syndrome is genetically heterogeneous, with mutations in the PTPN11 gene accounting for approximately 50% of both familial and sporadic cases. |
![]() Test Code: 6107 This test can only be performed if there is a previously identified familial mutation. |
![]() Test Code: 6106 We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363. |