Congenital Heart Defects


Test Details
TEST CODE NGS370
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 267
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
ABCD4
ACTC1
ACVR2B
ADAM17
ADAMTS10
AFF4
AKT1
AKT3
ALMS1
ALX3
AMER1
ANKS6
ARHGAP31
ARL2BP
ARL6
ASCC1
ASXL1
ASXL2
ATP6V1A
ATP6V1E1
B3GALTL
B3GAT3
B9D1
B9D2
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BRAF
BRAT1
BRCA2
CACNA1D
CBL
CC2D2A
CCBE1
CCDC103
CCDC11
CCDC114
CCDC151
CCDC174
CCDC28B
CD96
CDC45
CDK13
CENPE
CENPF
CEP120
CEP290
CEP57
CFC1
CFTR
CHD7
CHRM3
CHST3
CITED2
CKAP2L
COA6
CPS1
CRB2
CREBBP
CRELD1
CTCF
DCPS
DDX11
DDX59
DIS3L2
DLL4
DNAAF1
DNAAF3
DNAH5
DNAI1
DPH1
DSG1
DTNA
DVL3
DYNC2LI1
DYX1C1
ECE1
EED
EFTUD2
EGFR
ELAC2
ELN
EOGT
EPG5
EPHB4
ESCO2
EVC
EVC2
EXT2
FADD
FAM58A
FANCA
FANCC
FANCD2
FANCE
FANCI
FCGR2A
FGFR1
FGFR2
FIBP
FLNA
FLNB
FOXC1
FOXC2
FOXF1
FTO
GATA4
GATA6
GDF1
GJA1
GLIS3
GPC6
GPX4
H19
HAAO
HES7
HIBCH
HPGD
HYLS1
IGF2
INVS
IRX5
JAG1
KAT6A
KAT6B
KIAA0586
KIF7
KLF1
KRAS
KYNU
LBR
LIFR
LONP1
LRP2
LRP5
LZTFL1
LZTR1
MAP3K7
MASP1
MED13L
MEGF8
MEIS2
MEOX1
MGP
MKKS
MKS1
MMP21
MPLKIP
MYH6
NEK1
NEK9
NKAIN2
NKX2-1
NKX2-5
NKX2-6
NODAL
NONO
NOTCH1
NOTCH2
NPHP3
NR2F2
NRAS
NSMCE2
NUP155
OFD1
PALB2
PBX1
PCCA
PCCB
PET100
PIEZO1
PIK3CA
PIK3R2
PITX2
PKD1L1
POGZ
PPA2
PRKD1
PTF1A
PTPN11
PUF60
RAB23
RAC1
RAF1
RAI1
RARB
RBM10
RBM8A
RECQL4
RERE
RIT1
ROR2
RPGRIP1L
RPL11
RPL15
RPL27
RPL5
RPS17
RPS19
RPS26
SALL1
SALL4
SBDS
SEMA3E
SF3B4
SH3PXD2B
SHOC2
SKIV2L
SMAD4
SMAD6
SMG9
SNRPB
SON
SOS1
SOS2
SOX2
SOX9
SPECC1L
STAMBP
STRA6
STRADA
TAB2
TAPT1
TBX1
TBX20
TBX3
TBX5
TCTN2
TELO2
TGDS
THOC6
TIMMDC1
TLL1
TMCO1
TMEM126B
TMEM216
TMEM231
TMEM67
TOR1AIP1
TP63
TRAIP
TRIM32
TRIP4
TRMT10C
TTC37
TTC7A
TTC8
TWIST1
TXNL4A
UBR1
UMPS
VMA21
VPS33A
WDPCP
WDR60
WNT3
WNT4
XYLT2
YY1AP1
ZFPM2
ZIC3
ZNF148

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