Collect

3-5 mL Blood in 5 mL Lav top (EDTA)
or
2-5 mcL DNA in 1.5 mL Epdrf tube TE buffer

If DNA is sent as a specimen for this assay, the DNA must have been extracted at a CLIA and/or CAP accredited laboratory.

Minimum Collection Volume

1 mL Blood in 5 mL Lavender top (EDTA)
2 mcL DNA in 1.5 mL Epdrf tube TE buffer

Acceptable Specimen Collect Alternatives

25 cm Cells in Flask (cm2) filled with media
Saliva, use saliva collection kit
2 cytobrushes
0.5 mL amniotic fluid in Sterile Cntr

Stability (from collection to initiation)

Blood - Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

DNA - stable in Epdrf Tube w/TE buffer

Cells - Ambient: 24 hours; Refrigerated: Unacceptable; Frozen: Unacceptable

Amniotic Fluid- Ambient: 24 hours, Lab must receive sample within 24 hours of collection, protect from light using dark tubes or placing tubes in a dark bag. Do not refrigerate or freeze.

Specimen Preparation

Whole blood samples, 3-5 mL, should be collected in an EDTA (purple top) tube and stored at 4°C until shipped.

Amniotic Fluid- Lab must receive sample within 24 hours of collection, protect from light using dark tubes or placing tubes in a dark bag.

All samples should be clearly labeled with the patient’s name and date of birth or two other unique identifiers.

Storage/Transport Temperature

All samples for genetic testing may be shipped at room temperature by overnight express carrier, such as FedEx, UPS, or DHL to arrive Monday through Friday.

All specimens should be appropriately packaged to avoid crushing, breakage, or leakage.

Performing Lab

Molecular Genetics Diagnostic Laboratory (513)636-4474 ;  FAX:  (513)636-4373

HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)

Performed

Mon - Fri

Unacceptable Conditions

No name on specimen container

Synonyms

  • CHD
  • TBX5
  • TBX1
  • NKX2.5
  • 22q11.2 Deletion Syndrome
  • Velocardiofacial Syndrome
  • DiGeorge Syndrome
  • Holt-Oram Syndrome
  • Isolated Nonsyndromic Congenital Heart Disease
  • Familial atrial septal defects with AV block
  • ABL1
  • ACTA2
  • ACTB
  • ACTC1
  • ACTG1
  • ACVR1
  • ACVR2B
  • ACVRL1
  • ADAMTS10
  • AK7
  • ALMS1
  • ANKS6
  • ARHGAP31
  • ARMC4
  • ATRX
  • B3GAT3
  • BBS1
  • BBS10
  • BBS2
  • BCL9L
  • BCOR
  • BMPR2
  • BRAF
  • C21orf59
  • CACNA1C
  • CBL
  • CCDC103
  • CCDC11
  • CCDC114
  • CCDC151
  • CCDC39
  • CCDC40
  • CCDC65
  • CCNO
  • CDK13
  • CENPF
  • CFAP300
  • CHD4
  • CHD7
  • CITED2
  • COL2A1
  • CREBBP
  • CRELD1
  • CYR61
  • DHCR7
  • DNAAF1
  • DNAAF2
  • DNAAF3
  • DNAAF4
  • DNAAF5
  • DNAH1
  • DNAH11
  • DNAH5
  • DNAH8
  • DNAH9
  • DNAI1
  • DNAI2
  • DNAJB13
  • DNAL1
  • DRC1
  • DSG2
  • DSP
  • DTNA
  • EFTUD2
  • EIF2AK4
  • ELN
  • ENG
  • EVC
  • EVC2
  • FBN1
  • FBN2
  • FGFR2
  • FLNA
  • FLNB
  • FOXC1
  • FOXC2
  • FOXF1
  • FOXH1
  • G6PC3
  • GAS2L2
  • GAS8
  • GATA4
  • GATA5
  • GATA6
  • GDF1
  • GJA1
  • GJA5
  • GLI3
  • GPC3
  • HAND1
  • HES7
  • HRAS
  • HYDIN
  • INVS
  • JAG1
  • KCNJ2
  • KIF7
  • KRAS
  • LEFTY2
  • LMNA
  • LRRC56
  • LRRC6
  • MAP2K1
  • MAP2K2
  • MCIDAS
  • MED13L
  • MEGF8
  • MEIS2
  • MID1
  • MKKS
  • MKS1
  • MMP21
  • MRE11
  • MYCN
  • MYH6
  • NAT10
  • NEK8
  • NF1
  • NIPBL
  • NKX2-6
  • NME8
  • NODAL
  • NOTCH1
  • NOTCH2
  • NPHP3
  • NR2F2
  • NRAS
  • NSD1
  • NTRK3
  • OFD1
  • PIH1D3
  • PIK3R2
  • PITX2
  • PKD1L1
  • PKD2
  • PPP1CB
  • PQBP1
  • PRKD1
  • PRKG1
  • PRRX1
  • PTPN11
  • RAF1
  • RAI1
  • RBM10
  • RIT1
  • RSPH1
  • RSPH3
  • RSPH4A
  • RSPH9
  • SALL4
  • SCN1B
  • SCN5A
  • SEMA3E
  • SHOC2
  • SHROOM3
  • SKI
  • SMAD2
  • SMAD6
  • SOS1
  • SOS2
  • SOX2
  • SOX7
  • SPAG1
  • SPEG
  • TAB2
  • TBX20
  • TBX3
  • TCAP
  • TCTN2
  • TFAP2B
  • TGDS
  • TGFB2
  • TGFBR2
  • TLL1
  • TTC25
  • TWIST1
  • UBR1
  • VCL
  • WDR35
  • ZFPM2
  • ZIC3
  • ZMPSTE24
  • ZMYND10
  • ZNF469
  • cardiology panel

Tests Included

This panel analyses the following 188 genes: ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ACVRL1, ADAMTS10, AK7, ALMS1, ANKS6, ARHGAP31, ARMC4, ATRX, B2GAT3, BBS1, BBS10, BBS2, BCL9L, BCOR, BMPR2, BRAF, C21orf59, CACNA1C, CBL, CCDC103, CCDC11, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CDK13, CENPF, CFAP300, CHD4, CHD7, CITED2, COL2A1, CREBBP, CRELD1, CYR61, DHCR7, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DSG2, DSP, DTNA, EFTUD2, EIF2AK4, ELN, ENG, EVC, EVC2, FBN1, FBN2, FGFR2, FLNA, FLNB, FOXC1, FOXC2, FOXF1, FOXH1, G6PC3, GAS2L2, GAS8, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, GLI3, GPC3, HAND1, HES7, HRAS, HYDIN, INVS, JAG1, KCNJ2, KIF7, KRAS, LEFTY2, LMNA, LRRC56, LRRC6, MAP2K1, MAP2K2, MCIDAS, MED13L, MEGF8, MIES2, MID1, MKKS, MKS1, MMP21, MRE11, MYCH, MYH6, NAT10, NEK8, NF1, NIPBL, NKX2.5, NKX2.6, NME8, NODAL, NOTCH1, NOTCH2, NPHP3, NR2F2, NRAS, NSD1, NTRK3, OFD1, PIH1D3, PIK3R2, PITX2, PKD1L1, PKD2, PPP1CB, PQBP1, PRKD1, PRKG1, PRRX1, PTPN11, RAF1, RAI1, RBM10, RIT1, RSPH1, RSPH3, RSPH4A, RSPH9, SALL4, SCN1B, SCN5A, SEMA3E, SHOC2, SHROOM3, SKI, SMAD2, SMAD6, SOS1, SOS2, SOX2, SOX7, SPAG1, SPEG, TAB2, TBX1, TBX20, TBX3, TBX5, TCAP, TCTN2, TFAP2B, TGDS, TGFB2, TGFBR2, TLL1, TTC25, TWIST1, UBR1, VCL, WDR35, ZFPM2, ZIC3, ZMPSTE24, ZMYND10, ZNF469

Methodology

Squencing

Reported

42 Days

CPT Codes

81443

Collection

Collect

3-5 mL Blood in 5 mL Lav top (EDTA)
or
2-5 mcL DNA in 1.5 mL Epdrf tube TE buffer

If DNA is sent as a specimen for this assay, the DNA must have been extracted at a CLIA and/or CAP accredited laboratory.

Minimum Collection Volume

1 mL Blood in 5 mL Lavender top (EDTA)
2 mcL DNA in 1.5 mL Epdrf tube TE buffer

Acceptable Specimen Collect Alternatives

25 cm Cells in Flask (cm2) filled with media
Saliva, use saliva collection kit
2 cytobrushes
0.5 mL amniotic fluid in Sterile Cntr

Stability (from collection to initiation)

Blood - Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

DNA - stable in Epdrf Tube w/TE buffer

Cells - Ambient: 24 hours; Refrigerated: Unacceptable; Frozen: Unacceptable

Amniotic Fluid- Ambient: 24 hours, Lab must receive sample within 24 hours of collection, protect from light using dark tubes or placing tubes in a dark bag. Do not refrigerate or freeze.

Specimen Preparation

Whole blood samples, 3-5 mL, should be collected in an EDTA (purple top) tube and stored at 4°C until shipped.

Amniotic Fluid- Lab must receive sample within 24 hours of collection, protect from light using dark tubes or placing tubes in a dark bag.

All samples should be clearly labeled with the patient’s name and date of birth or two other unique identifiers.

Storage/Transport Temperature

All samples for genetic testing may be shipped at room temperature by overnight express carrier, such as FedEx, UPS, or DHL to arrive Monday through Friday.

All specimens should be appropriately packaged to avoid crushing, breakage, or leakage.

Performing Lab

Molecular Genetics Diagnostic Laboratory (513)636-4474 ;  FAX:  (513)636-4373

HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)

Performed

Mon - Fri

Unacceptable Conditions

No name on specimen container
Ordering

Synonyms

  • CHD
  • TBX5
  • TBX1
  • NKX2.5
  • 22q11.2 Deletion Syndrome
  • Velocardiofacial Syndrome
  • DiGeorge Syndrome
  • Holt-Oram Syndrome
  • Isolated Nonsyndromic Congenital Heart Disease
  • Familial atrial septal defects with AV block
  • ABL1
  • ACTA2
  • ACTB
  • ACTC1
  • ACTG1
  • ACVR1
  • ACVR2B
  • ACVRL1
  • ADAMTS10
  • AK7
  • ALMS1
  • ANKS6
  • ARHGAP31
  • ARMC4
  • ATRX
  • B3GAT3
  • BBS1
  • BBS10
  • BBS2
  • BCL9L
  • BCOR
  • BMPR2
  • BRAF
  • C21orf59
  • CACNA1C
  • CBL
  • CCDC103
  • CCDC11
  • CCDC114
  • CCDC151
  • CCDC39
  • CCDC40
  • CCDC65
  • CCNO
  • CDK13
  • CENPF
  • CFAP300
  • CHD4
  • CHD7
  • CITED2
  • COL2A1
  • CREBBP
  • CRELD1
  • CYR61
  • DHCR7
  • DNAAF1
  • DNAAF2
  • DNAAF3
  • DNAAF4
  • DNAAF5
  • DNAH1
  • DNAH11
  • DNAH5
  • DNAH8
  • DNAH9
  • DNAI1
  • DNAI2
  • DNAJB13
  • DNAL1
  • DRC1
  • DSG2
  • DSP
  • DTNA
  • EFTUD2
  • EIF2AK4
  • ELN
  • ENG
  • EVC
  • EVC2
  • FBN1
  • FBN2
  • FGFR2
  • FLNA
  • FLNB
  • FOXC1
  • FOXC2
  • FOXF1
  • FOXH1
  • G6PC3
  • GAS2L2
  • GAS8
  • GATA4
  • GATA5
  • GATA6
  • GDF1
  • GJA1
  • GJA5
  • GLI3
  • GPC3
  • HAND1
  • HES7
  • HRAS
  • HYDIN
  • INVS
  • JAG1
  • KCNJ2
  • KIF7
  • KRAS
  • LEFTY2
  • LMNA
  • LRRC56
  • LRRC6
  • MAP2K1
  • MAP2K2
  • MCIDAS
  • MED13L
  • MEGF8
  • MEIS2
  • MID1
  • MKKS
  • MKS1
  • MMP21
  • MRE11
  • MYCN
  • MYH6
  • NAT10
  • NEK8
  • NF1
  • NIPBL
  • NKX2-6
  • NME8
  • NODAL
  • NOTCH1
  • NOTCH2
  • NPHP3
  • NR2F2
  • NRAS
  • NSD1
  • NTRK3
  • OFD1
  • PIH1D3
  • PIK3R2
  • PITX2
  • PKD1L1
  • PKD2
  • PPP1CB
  • PQBP1
  • PRKD1
  • PRKG1
  • PRRX1
  • PTPN11
  • RAF1
  • RAI1
  • RBM10
  • RIT1
  • RSPH1
  • RSPH3
  • RSPH4A
  • RSPH9
  • SALL4
  • SCN1B
  • SCN5A
  • SEMA3E
  • SHOC2
  • SHROOM3
  • SKI
  • SMAD2
  • SMAD6
  • SOS1
  • SOS2
  • SOX2
  • SOX7
  • SPAG1
  • SPEG
  • TAB2
  • TBX20
  • TBX3
  • TCAP
  • TCTN2
  • TFAP2B
  • TGDS
  • TGFB2
  • TGFBR2
  • TLL1
  • TTC25
  • TWIST1
  • UBR1
  • VCL
  • WDR35
  • ZFPM2
  • ZIC3
  • ZMPSTE24
  • ZMYND10
  • ZNF469
  • cardiology panel

Tests Included

This panel analyses the following 188 genes: ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ACVRL1, ADAMTS10, AK7, ALMS1, ANKS6, ARHGAP31, ARMC4, ATRX, B2GAT3, BBS1, BBS10, BBS2, BCL9L, BCOR, BMPR2, BRAF, C21orf59, CACNA1C, CBL, CCDC103, CCDC11, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CDK13, CENPF, CFAP300, CHD4, CHD7, CITED2, COL2A1, CREBBP, CRELD1, CYR61, DHCR7, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DSG2, DSP, DTNA, EFTUD2, EIF2AK4, ELN, ENG, EVC, EVC2, FBN1, FBN2, FGFR2, FLNA, FLNB, FOXC1, FOXC2, FOXF1, FOXH1, G6PC3, GAS2L2, GAS8, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, GLI3, GPC3, HAND1, HES7, HRAS, HYDIN, INVS, JAG1, KCNJ2, KIF7, KRAS, LEFTY2, LMNA, LRRC56, LRRC6, MAP2K1, MAP2K2, MCIDAS, MED13L, MEGF8, MIES2, MID1, MKKS, MKS1, MMP21, MRE11, MYCH, MYH6, NAT10, NEK8, NF1, NIPBL, NKX2.5, NKX2.6, NME8, NODAL, NOTCH1, NOTCH2, NPHP3, NR2F2, NRAS, NSD1, NTRK3, OFD1, PIH1D3, PIK3R2, PITX2, PKD1L1, PKD2, PPP1CB, PQBP1, PRKD1, PRKG1, PRRX1, PTPN11, RAF1, RAI1, RBM10, RIT1, RSPH1, RSPH3, RSPH4A, RSPH9, SALL4, SCN1B, SCN5A, SEMA3E, SHOC2, SHROOM3, SKI, SMAD2, SMAD6, SOS1, SOS2, SOX2, SOX7, SPAG1, SPEG, TAB2, TBX1, TBX20, TBX3, TBX5, TCAP, TCTN2, TFAP2B, TGDS, TGFB2, TGFBR2, TLL1, TTC25, TWIST1, UBR1, VCL, WDR35, ZFPM2, ZIC3, ZMPSTE24, ZMYND10, ZNF469

Methodology

Squencing

Reported

42 Days
Result Interpretation
Laboratory Personnel Use

CPT Codes

81443