Mutations in the FOXE1 (9q22) gene have been associated with Bamforth Lazarus syndrome (BLS). In addition to congenital hypothyroidism, other characteristics of BLS can include bilateral choanal atresia, cleft palate, bifid epiglottis, and spiky or curly hair. Hypothyroidism can be due to athyreosis or a nonfunctional eutopic thyroid. Sequencing of the FOXE1 gene is recommended after a biochemical diagnosis of congenital hypothyroidism that presents with the characteristics listed above. It can be used to confirm the presence of mutations in a proband, identify carriers among the proband's relatives, and provide prenatal diagnosis in families with known mutations.
Please click here for the OMIM summary on this condition.
- Confirmation of a clinical/biochemical diagnosis of congenital hypothyroidism presenting with choanal atresia, cleft palate, and spiky hair.
- 4/4 alleles identified in brothers
- 4/4 alleles identified in siblings
- 2/2 alleles identified in a female (See OMIM 602617)
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Known Mutation Analysis (KM) is available to family members if mutations are identified by sequencing.
- Prenatal Custom Diagnostics is available to couples who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.