Syndromic causes of congenital and early-onset obesity on this panel include:
- Albright hereditary osteodystrophy
- Alstrom syndrome
- Bardet-Biedl syndrome
- Borjeson-Forssman-Lehmann syndrome
- Cohen syndrome
- Schaaf-Yang syndrome (also called Prader-Willi-like syndrome)
- Leptin deficiency
- Leptin receptor deficiency
- MC4R (melanocortin 4 receptor) deficiency
- Farooqi, I. Sadaf, and Stephen O'Rahilly. "Genetic Obesity Syndrome." The Genetics of Obesity. By Struan F. A. Grant. New York: Spinger, 2014. 23-32. Print.
- Goldstone AP, Beales PL. Genetic obesity syndromes. Frontiers of Hormones Research. 2008. 36:37-60. doi: 10.1159/0000115336.
- Funcke J et al. Monogenic forms of childhood obesity due to mutations in the leptin gene. Mol Cell Pediatr. 2014 Dec; 1: 3.
- McLennan Y, et al. Fragile X Syndrome. Current Genomics. 2011 May; 12(3): 216-224.
- GeneReviews available http://www.ncbi.nlm.nih.gov/books/NBK1116/.
- OrphaNet available at http://www.orpha.net/.
- Individuals with a clinical or suspected diagnosis of congenital obesity.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
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: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 30 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.