Congenital Heart Defects


Test Details
TEST CODE NGS370
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 101
CPT CODE 81405, 81407 x3, 81479
PRICE $1995
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

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.

Relevant Diseases
  • Congenital Heart Defects

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
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).

Genes Assessed
ACTC1
ACVR2B
AKT3
ARL6
ASXL2
B9D1
B9D2
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BRAF
CBL
CC2D2A
CCDC11
CCDC28B
CDC45
CEP290
CFC1
CHD7
CITED2
CPS1
CREBBP
CRELD1
DCPS
DNAAF1
DNAH5
DTNA
ELN
EXT2
FANCA
FLNA
FOXF1
GATA4
GATA6
GDF1
GJA1
GPC6
JAG1
KIF7
KRAS
MAP3K7
MED13L
MKKS
MKS1
MPLKIP
MYH6
NKAIN2
NKX2-5
NKX2-6
NODAL
NOTCH1
NPHP3
NR2F2
NRAS
NSMCE2
OFD1
PALB2
PIK3CA
PIK3R2
PITX2
PTPN11
RAF1
RAI1
RBM10
RECQL4
RIT1
ROR2
RPGRIP1L
RPS19
SEMA3E
SHOC2
SMAD4
SMAD6
SNRPB
SON
SOS1
STRADA
TAB2
TBX1
TBX20
TBX5
TCTN2
TELO2
TLL1
TMEM216
TMEM231
TMEM67
TOR1AIP1
TRIM32
TTC8
VPS33A
WDPCP
YY1AP1
ZFPM2
ZIC3
ZNF148

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