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Rare Diseases

Treatable Diseases Panel

The Treatable Diseases Panel is a genetic test for expanded neonatal diagnosis, which detects genetic variants associated with several treatable diseases from birth, offering an opportunity for early intervention.

Overview

It is estimated that around 80% of children tested annually in Brazil receive an early diagnosis of one of the diseases covered.

Reports from the American Heart Association (AHA) and articles from journals such as the Journal of the American College of Cardiology.

1 in every 1,000 newborns is diagnosed with Sickle Cell Anemia, a hereditary disease that causes deformation of red blood cells, resulting in pain crises, infections, and growth problems.

Source: Ministry of Health of Brazil.

1 in every 4,000 newborns is diagnosed with endocrine diseases, such as congenital hypothyroidism.

Source: Ministry of Health of Brazil.

When Should You Consider This Test?

Consider this test in the following cases:

Symptomatic patients or those with alterations in other laboratory tests.

Analyzed Genes

The panel covers:

563

Genes

AAAS, ABCB11, ABCB4, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ACAD8, ACADM, ACADVL, ACAT1, ACOX2, ACSF3, ADA, ADAMTS13, AGL, AGRN, AHCY, AICDA, AK2, AKR1D1, ALAD, ALAS2, ALDH7A1, ALDOA, ALDOB, ALG14, ALG2, ALPL, AMACR, AMN, AMT, APOA5, APOB, APOC2, AQP2, ARG1, ARPC1B, ARSA, ARSB, ASCC3, ASL, ASS1, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, AVPR2, B2M, BAAT, BCKDHA, BCKDHB, BCKDK, BCL10, BLNK, BSND, BTD, BTK, C3, CA5A, CACNA1S, CAD, CARD11, CARMIL2, CASP8, CASR, CBLIF, CBS, CD247, CD27, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD70, CD79A, CD79B, CDCA8, CFP, CFTR, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CIITA, CLCN7, CLCNKA, CLCNKB, CLDN16, CLDN19, CLPB, CNNM2, COL13A1, COL1A1, COL1A2, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORO1A, CPOX, CPS1, CPT1A, CPT2, CSF3R, CTLA4, CTNS, CTPS1, CUBN, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP27A1, CYP27B1, CYP2R1, CYP7B1, DBT, DCLRE1C, DDC, DGAT1, DHFR, DLD, DMD, DMP1, DNAJC12, DNAJC21, DOCK2, DOCK8, DOK7, DPAGT1, DUOX2, DUOXA2, EFL1, EIF6, ELANE, ENPP1, EPO, ERCC6L2, ETFA, ETFB, ETFDH, F13A1, F13B, F2, F8, F9, FAAP24, FAH, FAS, FASLG, FBP1, FECH, FERMT3, FGA, FGF23, FGFR3, FLAD1, FOLR1, FOXA2, FOXE1, FOXN1, FOXP3, G6PC1, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALM, GALNS, GALT, GAMT, GATA1, GATA2, GATM, GBA1, GBE1, GCDH, GCH1, GCK, GCSH, GFI1, GFPT1, GGCX, GH1, GHR, GHRHR, GJB2, GJB6, GLA, GLDC, GLI2, GLIS3, GLRA1, GLRB, GLUD1, GOT2, GPIHBP1, GUSB, GYS1, GYS2, HADH, HADHA, HADHB, HAVCR2, HAX1, HBB, HCFC1, HEATR3, HK1, HLCS, HMBS, HMGCL, HMGCS2, HPD, HSD3B2, HSD3B7, HYOU1, IDS, IDUA, IFNG, IFNGR1, IFNGR2, IGHM, IGLL1, IGSF1, IKBKB, IL12B, IL12RB1, IL12RB2, IL18BP, IL23R, IL2RA, IL2RB, IL2RG, IL7R, IMPDH2, INO80, INS, INSR, IRAK1, IRAK4, IRF4, IRF8, IRS4, ITGB2, ITK, ITPKB, IVD, IYD, JAGN1, JAK1, JAK3, KCNJ1, KCNJ11, KCNQ2, KCNT1, LAMA5, LAMB2, LAT, LCK, LCP2, LCT, LDHA, LDLR, LDLRAP1, LEP, LHX3, LHX4, LIPA, LMBRD1, LMF1, LPL, LRP4, LYN, LYST, MAGED2, MAGT1, MALT1, MAML2, MAMLD1, MAN2B1, MAP3K14, MC2R, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPI, MPL, MRAP, MTHFD1, MTHFR, MTM1, MTR, MTRR, MTTP, MUSK, MYD88, MYH9, MYO5B, MYO9A, MYSM1, NAGLU, NAGS, NCF2, NCF4, NEUROG3, NFKB1, NKX2-1, NKX2-5, NNT, NPC1, NPC2, NR0B1, NR1H4, NR5A1, NTN1, ORAI1, OTC, OTX2, OXCT1, PAH, PAX1, PAX8, PC, PCBD1, PCCA, PCCB, PCK1, PCSK1, PCSK9, PDSS1, PDSS2, PDX1, PDXK, PFKM, PGAM2, PGM1, PGM3, PHEX, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PIK3CD, PIK3R1, PKLR, PLAGL1, PLEC, PLPBP, PNP, PNPO, POLD1, POLD2, POMC, POR, POU1F1, POU2AF1, PPOX, PREPL, PRF1, PRKCD, PROP1, PSAT1, PSPH, PTF1A, PTPRC, PTS, PURA, PYGL, PYGM, QDPR, RAB27A, RAC2, RAG1, RAG2, RAPSN, RASGRP1, RB1, RC3H1, RFX5, RFXANK, RFXAP, RHOG, ROBO1, RORC, RPH3A, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPL8, RPLP0, RPS10, RPS11, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RYR1, SASH3, SBDS, SCN4A, SCNN1A, SCNN1B, SCNN1G, SEMA7A, SH2D1A, SH3KBP1, SI, SLC12A1, SLC16A1, SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A32, SLC25A36, SLC26A3, SLC26A4, SLC26A7, SLC2A1, SLC2A2, SLC31A1, SLC34A3, SLC35A2, SLC37A4, SLC39A4, SLC39A7, SLC39A8, SLC3A1, SLC46A1, SLC51A, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC5A6, SLC5A7, SLC6A5, SLC6A6, SLC7A7, SLC7A9, SMN1, SMPD1, SNAP25, SORD, SOX3, SP110, SPI1, SPPL2A, SPR, SRP54, SRP72, STAR, STAT1, STX11, STXBP2, SYT2, TANGO2, TAP1, TAP2, TAPBP, TAT, TBL1X, TBX19, TBX21, TCF3, TCN2, TEFM, TFRC, TG, TH, THAP11, THRA, TIRAP, TJP2, TK2, TOP2B, TOR1AIP1, TPK1, TPO, TPP1, TRH, TRHR, TRPM6, TSC1, TSC2, TSHB, TSHR, TSR2, TTPA, TUBB1, TYK2, UCP2, UGT1A1, UNC13A, UNC13D, UNG, UROD, UROS, USP53, VAMP1, VDR, VKORC1, VPS45, WAS, WIPF1, XIAP, ZAP70, ZFP57, ZFYVE19, ZNF143, ZNF808, ZNRF3

Methodology

The methodology used for this test is as follows:

PREPARATION:

Saliva: 30 minutes of total fasting.

TURNAROUND TIME:

Up to 21 calendar days.

REQUIRED DOCUMENTS:

Medical request.

Sample:

Saliva
TypeDescription
TechniqueNext-Generation Sequencing (NGS)
Accuracy99%

How to Request the Test?

Contact Our Customer Services
Exatus Gene will send a collection kit and provide instructions for sample collection.
We will retrieve the collected sample and send it to the laboratory for analysis.
The report will be made available through the SysGene Portal and sent to your email