Pneumology

NGS, with CNVs analysis

34900

–

176

ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf59, C2orf71, C5orf42, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC172, CCDC28B, CCDC39, CCDC40, CCDC65, CCDC96, CCNO, CDH23, CENPF, CEP104, CEP120, CEP164, CEP290, CEP295, CEP41, CEP83, CFAP300, CFAP53, CFTR, CLRN1, CRB1, CRELD1, CRX, CSPP1, DCDC2, DEUP1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYNC2H1, EVC, EVC2, EXOC6B, EXOC8, FAM166B, FOXH1, GAS2L2, GAS8, GDF1, GLIS2, GUCY2D, HYDIN, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IMPDH1, INPP5E, INVS, IQCB1, KCNJ13, KIAA0556, KIAA0586, KIF14, KIF7, LCA5, LEFTY2, LRAT, LRRC34, LRRC6, LZTFL1, MAPKBP1, MCIDAS, MKKS, MKS1, MRE11, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PCDH15, PDE6D, PIEZO2, PIH1D3, PKD2, PKHD1, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SPAG1, SPATA7, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM17, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TSC1, TSC2, TTC21B, TTC23, TTC25, TTC6, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, XPNPEP3, ZIC3, ZMYND10, ZNF423

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Pneumology

Fragment analysis

34341

#219700

1

CFTR

2 to 4 weeks

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Pneumology

Fragment analysis

34335

#219700

1

CFTR

4 to 6 weeks

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Pneumology

Sequencing

36180

#219700

1

CFTR

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Pneumology

NGS, with CNVs analysis

34900

–

21

ABCA3, AP3B1, CSF2RA, CSF2RB, DKC1, FOXF1, HPS1, HPS4, MUC5B, NKX2-1, RTEL1, PARN, SLC7A7, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Pneumology

NGS, with CNVs analysis

34900

–

2

SLC52A2, SLC52A3

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Pneumology

Pediatrics

NGS, with CNVs analysis

34900

–

56

ABCA3, ARMC4, C21orf59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFTR, COPA, CSF2RA, CSF2RB, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FGFR2, FLNA, FOXF1, GAS2L2, GAS8, HYDIN, INVS, LRRC6, MCIDAS, NKX2-1, NME8, OFD1, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SFTPA1, SFTPB, SFTPC, SFTPD, SPAG1, TBX4, TMEM173, TTC25, ZMYND10

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Pneumology

NGS, with CNVs analysis

34900

–

42

ARMC4, C21orf59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP300, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, LRRC56, LRRC6, MCIDAS, NEK10, NME8, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25, ZMYND10

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Cardiology

Nephrology, Pneumology, Internal Medicine

NGS, with CNVs analysis

34900

–

15

ABCC8, BMPR2, ACVRL1, ATP13A3, CAV1, EIF2AK4, ENG, GDF2, GGCX, KCNK3, KDR, SMAD9, SOX17, TBX4, TET2

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Pneumology

Pediatrics

NGS, with CNVs analysis

34900

–

67

ABCA3, CCDC39, CCDC40, CFTR, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, CSF2RA, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, EDN3, EFEMP2, ELMOD2, ELN, FBLN5, FLCN, FOXF1, GAS8, GLRA1, HPS1, HPS4, ITGA3, LTBP4, MECP2, NAF1, NF1, NKX2-1, NME8, PARN, PHOX2B, PIH1D3, RAPSN, RET, RSPH3, RSPH4A, RSPH9, RTEL1, SCN4A, SCNN1A, SCNN1B, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC6A5, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, TSC1, TSC2, ZEB2

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.