Short Description

List of genes tested using NGS technology for detection of variant and mutation in Metabolic Disorders Wide Range Panel are ABCA1, ABCB4, ABCC2, ABCD1, ABCD4, ABCG5, ABCG8, ACAT1, ADA, AGA, AGL, AGPS, AGXT, ALAD, ALAS2, ALDH4A1, ALDOA, ALDOB, ALG3, ALPL, ANTXR2, APOA2, APOA5, APOB, APOC2, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DHCR7, DIABLO, DLX4, DNAJC5, DPYD, ENO3, ENPP1, EPHX2, ETHE1, FAH, FBP1, FECH, FGF23, FUCA1, G6PC, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GHR, GK, GLA, GLB1, GM2A, GNPAT, GNPTAB, GNPTG, GNS, GUSB, GYG1, GYS1, GYS2, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HPD, HPRT1, HSD3B2, HYAL1, IDS, IDUA, ITIH4, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAN2B1, MANBA, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OTC, PAH, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, POR, PPOX, PPP1R17, PPT1, PRKAG2, PSAP, PYGL, PYGM, RBCK1, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A36, SLC2A1, SLC2A2, SLC2A3, SLC37A4, SLC3A1, SLC3A2, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SUMF1, TAT, TFR2, TPP1, UGT1A1, UMPS, UROD, UROS

PreTest Information

Clinical History of Patient who is going for Metabolic Disorders Wide Range Panel NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Metabolic Disorders Wide Range Panel

Detail Description

Metabolic Disorders Wide Range Panel NGS Genetic DNA Test

Metabolic disorders refer to a group of genetic conditions that affect the body’s ability to process and use nutrients. These disorders can cause a wide range of symptoms, including developmental delays, seizures, and other neurological problems. Metabolic disorders are often diagnosed through genetic testing, which can identify specific gene mutations that are associated with these conditions. One such test is the Metabolic Disorders Wide Range Panel NGS Genetic DNA Test, which is available at DNA Labs India.

What is the Metabolic Disorders Wide Range Panel NGS Genetic DNA Test?

The Metabolic Disorders Wide Range Panel NGS Genetic DNA Test is a comprehensive test that can identify mutations in over 600 genes that are associated with metabolic disorders. The test uses next-generation sequencing (NGS) technology to analyze a person’s DNA and identify any mutations that may be present. This test can be used to diagnose a wide range of metabolic disorders, including:

• Phenylketonuria (PKU)
• Galactosemia
• Maple syrup urine disease
• Hemochromatosis
• Wilson disease
• And many others

What are the symptoms of metabolic disorders?

The symptoms of metabolic disorders can vary widely depending on the specific condition. Some common symptoms include:

• Developmental delays
• Seizures
• Muscle weakness
• Enlarged liver or spleen
• Abnormal urine odor
• And many others

How are metabolic disorders diagnosed?

Metabolic disorders are often diagnosed through genetic testing, which can identify specific gene mutations that are associated with these conditions. The Metabolic Disorders Wide Range Panel NGS Genetic DNA Test is one such test. Other diagnostic tests may include blood tests, urine tests, and imaging studies.

What is the cost of the Metabolic Disorders Wide Range Panel NGS Genetic DNA Test?

The cost of the Metabolic Disorders Wide Range Panel NGS Genetic DNA Test at DNA Labs India is INR 20,000. This includes the cost of the test itself as well as any necessary genetic counseling and support.

Conclusion

The Metabolic Disorders Wide Range Panel NGS Genetic DNA Test is a comprehensive test that can identify mutations in over 600 genes that are associated with metabolic disorders. This test can be used to diagnose a wide range of metabolic disorders, and can help individuals and their healthcare providers make informed decisions about treatment and management options. If you or a loved one is experiencing symptoms of a metabolic disorder, speak with your healthcare provider about the possibility of genetic testing.

For more information about the Metabolic Disorders Wide Range Panel NGS Genetic DNA Test or other genetic testing options, contact DNA Labs India.