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Rare Diseases

Cheek Swab Test

The Cheek Swab Test is an expanded neonatal screening genetic test that detects genetic variants associated with several treatable diseases from birth, offering an opportunity for early intervention.

Overview

1 in 10,000 newborns is diagnosed with Phenylketonuria: a genetic metabolic disorder caused by the inability to metabolize phenylalanine, leading to its accumulation in the body and the risk of developmental delay.

Source: Ministry of Health of Brazil

1 in 15,000 newborns is diagnosed with Congenital Adrenal Hyperplasia: a genetic disorder affecting hormone production in the adrenal glands, which can cause sexual development issues and metabolic crises.

Source: Ministry of Health of Brazil

1 in 4,000 newborns is diagnosed with Congenital Hypothyroidism: an endocrine disorder where the newborn’s thyroid gland does not produce enough thyroid hormones, which may cause developmental delays.

Source: Ministry of Health of Brazil

When Should You Consider This Test?

Consider this test in the following cases:

Newborns and young children
Family history of genetic diseases
Ensuring a comprehensive diagnosis

(beyond the heel prick test)

Genes Analyzed

The panel includes:

543

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, 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, 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, FERMT3, FGA, FGF23, FGFR3, FLAD1, FOLR1, FOXA2, FOXE1, FOXN1, FOXP3, G6PC1, G6PC3, GAA, GALE, GALK1, GALM, GALNS, GALT, GAMT, GATA1, GATA2, GATM, GBA1, GBE1, GCDH, GCH1, GCK, 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, 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, LDLR, LDLRAP1, LEP, LHX3, LHX4, LIPA, LMBRD1, LMF1, LPL, LRP4, LYN, LYST, MAGED2, MAGT1, MALT1, MAML2, MAMLD1, MAN2B1, MAP3K14, MC2R, MCEE, 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, NR0B1, NR1H4, NR5A1, NTN1, ORAI1, OTC, OTX2, OXCT1, PAH, PAX1, PAX8, PCBD1, PCCA, PCCB, PCK1, PCSK1, PCSK9, PDSS1, PDSS2, PDX1, PDXK, PGM1, PGM3, PHEX, PHGDH, PHKA2, PHKB, PHKG2, PIK3CD, PIK3R1, PKLR, PLAGL1, PLEC, PLPBP, PNP, PNPO, POLD1, POLD2, POMC, POR, POU1F1, POU2AF1, PREPL, PRF1, PRKCD, PROP1, PSAT1, PSPH, PTF1A, PTPRC, PTS, PURA, PYGL, 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, 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, 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
Technique Next-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.