| Consent: | Description: | Form: |
|---|---|---|
| ABCA4 | Consent/requisition for molecular genetic testing for ABCA4 mutations | |
| ALS | Consent/requisition for molecular genetic testing for S0D1 gene analysis for Amyotrophic Lateral Sclerosis | |
| BMPR2 | Consent/requisition for molecular genetic testing for BMPR2 mutations | |
| CFTR | Consent/requisition for Cystic Fibrosis gene CFTR (ACOG Panel) genotyping | |
| Clinical Genetic Testing in Non–Columbia Labs |
Implementation of the new 2008 CU policy for obtaining informed consent for clinical genetic testing in CU laboratories is going well. Subsequently, several faculty have inquired about the process for clinical genetic testing at non-C.U. laboratories – commercial or academic, where outside consent forms are not necessarily compliant with NY State law. We offer the following guidance to clinicians:
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| DYT1 | Consent/requisition for molecular genetic testing for Early–Onset Torsion Dystonia | |
| Fragile X | Consent/requisition for molecular genetic testing for Fragile X (FMR1) CGG repeat expansion | |
| Glycogenoses–Biochemical | Consent/requisition for biochemical genetic testing for disorders of glycogen/lipid metabolism | |
| Glycogenoses– DNA | Consent/requisition for molecular genetic testing for (disorder/condition) disorders of glycogen/lipid metabolism | |
| Mitochondrial DIS | Consent/requisition for genetic testing for (disorder/condition) Mitochondrial diseases | |
| MLH1, MSH2 & MSH6 | Consent/Requisition for Immunohistochemistry for Hereditary Nonpolyposis Colorectal Cancer | |
| PWS | Consent/requisition for molecular genetic testing for Prader Willi/Angelman Syndrome by southern blot | |
| Thrombophilia | Consent/requisition for genetic testing for Factor V Leiden and Prothrombin 20210G>A Mutations |