Congenital Heart Defects
|TAT (TURNAROUND TIME)||2 - 4 weeks|
|CPT CODE||81405, 81407 x3, 81479|
|RECOMMENDED MNG KITS||
Congenital heart defects (CHDs) are structural defects of the heart and great vessels that are present at birth. These defects can involve: the interior walls of the heart, the valves inside the heart, the arteries and veins that carry blood to the heart or the body. CHDs change the normal flow of blood through the heart.
There are many types of heart defects. They range from simple defects with no symptoms to complex defects with severe, life-threatening problems. Simple congenital heart defects include septal defects and valvular defects. Complex defects include Tetralogy of Fallot, coarctation of the aorta, tricuspid atresia, and hypopolastic left heart syndrome. Heart defects are the most common type of birth defect affecting 8 out of every 1,000 newborns.
CHD is multifactorial, due to both genetic predisposition and environmental influences. CHDs often present in the setting of multiple congenital anomalies, including abnormal facial features, or in association with limb anomalies, organ malformations, developmental abnormalities, or growth abnormalities. Known genetic causes are heterogeneous, encompassing not only pathogenic variants in genes associated with heart defects, but also complex chromosomal abnormalities, submicroscopic duplications/deletions, and whole chromosome aneuploidies. Autosomal dominant, autosomal recessive, and X-linked inheritance patterns have all been reported.
|Acceptable Sample Types||
|Sample Preparation:||(1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.|
|Shipping Condition:||MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).|