Metabolic Diseases

Endocrinology

NGS, with CNVs analysis

34900

–

27

ABCA1, ABCG5, ABCG8, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APTX, CREB3L3, CYP27A1, EPHX2, GHR, GPD1, GPIHBP1, ITIH4, LDLR, LDLRAP1, LIPA, LIPI, LMF1, LPL, LRP6, PCSK9, PPP1R17, USF1

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.

Metabolic Diseases

Endocrinology

NGS, with CNVs analysis

34900

–

30

AGL, ALDOA, ALDOB, AMPD1, CPT2, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4

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.

Metabolic Diseases

Endocrinology

NGS, with CNVs analysis

34900

–

4

CA5A, CPS1, NAGS, OTC

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.

Endocrinology

Endocrinology

NGS, with CNVs analysis

34900

#238320

1

LHCGR

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.

Endocrinology

Metabolic Diseases

NGS, with CNVs analysis

34900

–

33

ANOS1, AXL, CCDC141, CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NR0B1, NSMF, POLR3B, PROK2, PROKR2, SEMA3A, SEMA3E, SEMA7A, SOX10, SPRY4, SRA1, TAC3, TACR3, WDR11

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.

Endocrinology

Metabolic Diseases

NGS, with CNVs analysis

34900

–

24

BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM1, CNNM2, CNNM4, EGF, EGFR, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, MMGT1, NIPA2, PCBD1, SARS2, SLC12A3, SLC41A2, SLC41A3, TRPM6, TRPM7

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.

Endocrinology

NGS, with CNVs analysis

34900

–

12

ABCC8, AGPAT2, BSCL2, CAVIN1, GCK, GLUD1, HADH, HNF4A, IGF1R, INSR, KCNJ11, UCP2

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.

Metabolic Diseases

Endocrinology

NGS, with CNVs analysis

34900

–

373

AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APOPT1, ATIC, ATP5A1, ATP5E, ATP7B, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BRIP1, BTD, C12orf65, CA5A, CASP8, CAT, CAVIN1, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COASY, COMT, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DECR1, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNAJC3, DNM1L, EARS2, ECHS1, EHHADH, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FECH, FH, FKBP10, FOXRED1, FTH1, FXN, GARS, GATM, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, HADH, HADHA, HADHB, HARS2, HAX1, HCCS, HIBCH, HINT1, HK1, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KARS, KIF1B, KRT5, L2HGDH, LARS2, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MAOA, MAOB, MARS2, MCCC1, MCCC2, MCEE, MFN2, MGME1, MICU1, MIP, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MSRB3, MTFMT, MTO1, MTPAP, MTRR, MUT, MUTYH, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NNT, NTHL1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, P4HB, PAM16, PANK2, PARK7, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX11B, PHYH, PINK1, PKLR, PNPLA8, PNPO, PNPT1, POLG, POLG2, PPM1K, PPOX, PRODH, PTGS1, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RARS, RARS2, RDH11, RECQL4, RMND1, RNASEH1, RNASEL, RPIA, RPL35A, RPS14, RRM2B, SARDH, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SECISBP2, SERAC1, SFXN4, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC9A6, SNAP29, SOD1, SOD2, SPG7, SPR, SPTLC2, STAR, STOM, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TCIRG1, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMLHE, TPI1, TPK1, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TWNK, TXNRD2, TYMP, UNG, UQCC2, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2

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.

Endocrinology

Metabolic Diseases

NGS, with CNVs analysis

34900

–

34

ABCC8, AKT2, APPL1, CEL, CISD2, DCAF17, DNAJC3, DYRK1B, GATA4, GATA6, GCK, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, LMNA, NEUROD1, PAX6, PCBD1, PDX1, PIK3R1, PLIN1, POLD1, PPARG, PPP1R15B, RFX6, SLC29A3, TRMT10A, WFS1, ZBTB20, ZFP57, ZMPSTE24

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.

Metabolic Diseases

Endocrinology

NGS, with CNVs analysis

34900

#605899

2

AMT, GLDC

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.