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The motor for all vital processes in the human body. It includes the build-
up (anabolism), breakdown (catabolism), and conversion (amphibolism) of various
substances that are needed to build up and maintain body tissue and generate energy.
A defective gene that results in enzyme deficiency. Hereditary metabolic disorders are defined as multisystemic diseases that cover a wide spectrum of more than 1,000 different disorders.
Changes in the genes of the metabolic pathway can lead to the accumulation of
metabolites, metabolic intermediates, or toxic substances, the production of unusual
metabolites, or the defective transport of certain substances.
This can cause a variety of symptoms which usually manifest shortly or within weeks after birth. However, they can also progress slowly over the years and develop later in life.
The prevalence of genetic metabolic disorders ranges from 1 in 200 to very rare (<1 in 1,000,000). While metabolic disorders are individually rare, collectively they affect 1%
to 3% of the world population and 1 in 1000 infants.
Our gene tests (single-gene, gene panels and a comprehensive panel) are associated with many different metabolic disorders, providing a diagnostic solution.
You need to be tested if you have:
Most genetic metabolic disorders have no specific clinical appearances, and their clinical
manifestations are highly complex and variable. Some of the commonly seen symptoms are:
- Weight loss, Poor appetite, Failure to gain weight or grow
- Lethargy, Abdominal pain , Vomiting
- Jaundice
- Seizures, Coma
- Developmental delay
- Abnormal odor of urine, breath, sweat, or saliva
Our gene tests (single-gene, gene panels and a comprehensive panel) are associated
with many different metabolic disorders, providing a diagnostic solution.
Metabolic disorders include cystic fibrosis, phenylketonuria (PKU), hyperlipidemia, etc. Inborn Errors of Metabolism (IEM) comprise a group of disorders in which a genetic defect causes a clinically significant block in a metabolic pathway.
Genetic testing can help to uncover the cause of persistent and/or debilitating symptoms. Identifying the disease-causing variant can help to decide on an appropriate and essential treatment that can prevent or reduce symptoms, avoid chronic health
consequences and improve quality of life.
Early diagnosis of metabolic disorders can lead to better cost-effective management of
disease conditions. For example, arginine must be supplemented in the diets of
individuals with certain urea cycle disorders because their body produces insufficient
amounts. In the case of PKU, it is advised to eat a special diet that limits foods
containing phenylalanine and avoiding high protein content foods.
Please reach us at contact@genatechs.com if you cannot find the panel or test you are seeking.
ACAD9, ACADM, ACADS, ACADSB, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH,
HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, MLYCD, SLC22A5,
SLC25A20
Full Analysis
Full Analysis
AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM,
PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2,
SLC37A4
ALG1, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP1,
ATP6V0A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1,
B4GALT7, CAD, CCDC115, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4,
COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2,
DPM3, EOGT, EXT1, EXT2, FKRP, FKTN, GALNT3, GFPT1, GMPPA, GMPPB, GNE,
ISPD, LARGE, LFNG, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NANS, NGLY1,
PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGC, PIGG, PIGL, PIGM, PIGN,
PIGO, PIGQ, PIGT, PIGV, PIGW, PIGY, PMM2, POFUT1, POGLUT1, POMGNT1,
POMT1, POMT2, PRKCSH, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35A3,
SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A,
STT3B, TMEM165, TMEM199, TMEM5, TRAPPC11, TUSC3, VPS13B, XYLT1, XYLT2
ABCD4, CBS, HCFC1, LMBRD1, MMACHC, MMADHC, MTHFR, MTR, MTRR
Full Analysis
BCKDHA, BCKDHB, DBT, DLD, PPM1K
Full Analysis
Our services are designed to benefit companies and organizations in industries such as ...
Our services are designed to benefit companies and organizations in industries such as ...
ABCD4, ACSF3, CD320, HCFC1, LMBRD1, MCEE, MMAA, MMAB, MMACHC,
MMADHC, MUT, SUCLA2, SUCLG1
ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH,
SUMF1
NPC1, NPC2, SMPD1
ABCD4, ACAT1, ACAT2, ACSF3, ALDH5A1, ASL, ASPA, AUH, BCKDHA, BCKDHB,
BTD, CblC, CD320, CLPB, D2HGDH, DBT, DHTKD1, DLD, DLST, DNAJC19, ETFA,
ETFB, ETFDH, ETHE1, FH, GCDH, GLYCTK, HCFC1, HLCS, HMGCL, HMGCS2,
HSD17B10, IDH2, IVD, L2HGDH, LMBRD1, MCCC1, MCCC2, MCEE, MLYCD, MMAA,
MMAB, MMACHC, MMADHC, MUT, MVK, OGDH, OPA3, OXCT1, PCCA, PCCB,
SERAC1, SLC25A1, SUCLA2, SUCLG1, SUGCT, TAZ, UMPS
ABCD1, ACOX1, AMACR, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14,
PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH
Full Analysis
Single Gene
ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15
AARS, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2,
ACSF3, ADCK3, ADCK4, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1,
ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APOPT1, APTX, ARG1, ASL,
ASS1, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT1, BCKDHA,
BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, C19ORF12, CA5A, CARS2, CHKB,
CISD2, CLPB, COA5, COA6, COASY, COG4, COG5, COG6, COG7, COG8, COQ2,
COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1,
COX7B, CPS1, CPT1A, CPT2, CYC1, DARS, DARS2, DBT, DDHD1, DDHD2, DDOST,
DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2, DOLK, DPAGT1,
DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH,
FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, G6PC, GAA, GAMT,
GARS, GATM, GBE1, GCDH, GFER, GFM1, GFM2, GLRX5, GMPPA, GSS, GTPBP3,
GYG1, GYG2, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS,
HMGCL, HMGCS2, HSD17B10, HSPD1, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2,
LARS, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS,
MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL12,
MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRR,
MUT, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5,
NDUFAF6, NDUFAF7, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4,
NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1,
NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2,
PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS,
RANBP2, RARS, RARS2, REEP1, RFT1, RMND1, RRM2B, SARS2, SCO1, SCO2,
SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1,
SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38,
SLC25A4, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC6A8, SLC7A7,
SPAST, SPG7, SPTLC1, SRD5A3, SSR4, STT3A, STT3B, STXBP1, SUCLA2,
SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM44, TIMM8A, TK2, TMEM126A,
TMEM165, TMEM70, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP,
UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
Single Gene
AMT, GCSH, GLDC, SLC6A9
Single Gene
Single Gene
Single Gene
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