Spinal Muscular Atrophy *Limitations: Carrier screening is not an all-inclusive test. It looks for certain mutations in specific genes associated with specific conditions. There is a residual risk to be a carrier for the conditions screened if the test returns with a low risk result. Carrier Screening-Algorithm Carrier screening is most effective for reproductive decision-making when offered in a pre-conception setting. The conditions screened have an autosomal recessive or X-linked inheritance pattern. Carrier Screening* Offer to All (via ACOG, ACMG guidelines) Cystic Fibrosis Spinal Muscular Atrophy Fragile X syndrome If the following is present: Family history of intellectual disability inherited through female relatives (X-linked pattern of inheritance) Personal or family history of premature ovarian failure (<40 yrs) Family history of later onset tremor/ataxia (fragile X associated tremor and ataxia) Ethnicity specific (via ACMG, ACOG guidelines) African/African American Asian/Indian Mediterranean Middle Eastern Hb electrophoresis for hemoglobinopathies Caucasian/ Mixed European/ Biracial Cystic fibrosis AND Spinal muscular atrophy Ashkenazi Jewish (Begin testing with Jewish partner) Ashkenazi Jewish specific carrier panel Main 4: Tay-Sachs, Canavan disease, Familial dysautonomia/, Cystic fibrosis Optional: Bloom syndrome, Familial hyperinsulinism, Fanconi anemia, Gaucher disease, Glycogen storage disease type I, Joubert syndrome, Maple syrup urine disease, Mucolipidosis type IV, Niemann–Pick disease, Usher syndrome French Canadian/ Cajun Tay-Sachs disease If patient desires expanded carrier screen OR Family history of a genetic condition Refer to genetic counseling for explanation and coordination of testing If Testing is Positive: Refer to genetic counseling for explanation of risk and potential testing of partner. If Testing is Low Risk: Discuss the residual risk for being a carrier of the conditions tested.