List of genes tested using NGS technology for detection of variant and mutation in Ataxia panel are ABCB7, ABHD12, ABHD5, ACADVL, ACO2, AFG3L2, AHI1, ALDH5A1, AMACR, ANO10, AP1S2, APTX, ARL13B, ARL6, ARSA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP8A2, B9D1, BBS1, BBS12, BSCL2, BTD, C12orf65, C19orf12, CA8, CACNA1A, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPP, COASY, COQ2, COQ8A, COQ9, COX20, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EXOSC3, FA2H, FBXL4, FGF14, FLVCR1, FTL, FXN, GALC, GBA, GBA2, GFAP, GJB1, GJC2, GOSR2, GRID2, GRM1, GSS, HEPACAM, HEXB, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKS1, MLC1, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, PANK2, PAX6, PDHX, PDSS1, PDSS2, PDYN, PEX10, PEX2, PEX7, PHYH, PLA2G6, PLP1, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRICKLE1, PRKCG, PRRT2, RARS2, RPGRIP1L, RRM2B, RUBCN, SACS, SCN2A, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC52A3, SLC9A6, SPG11, SPG7, SPR, SPTBN2, STUB1, SYNE1, TCTN2, TGM6, TMEM216, TMEM237, TMEM240, TMEM67, TPP1, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VRK1, WDR81, WFS1, WWOX, ZFYVE26
Ataxia Panel NGS Genetic DNA Test - Cost, Symptoms, and Diagnosis
Ataxia is a neurological disorder that affects the coordination of movement in individuals. It is caused due to damage to the cerebellum, which is responsible for the regulation of motor movements. Ataxia can be hereditary or acquired, and its symptoms can range from mild to severe. If you or your loved one is experiencing symptoms of ataxia, it is recommended to undergo the Ataxia Panel NGS Genetic DNA Test. In this blog, we will discuss the cost, symptoms, and diagnosis of the Ataxia Panel NGS Genetic DNA Test in India.
Symptoms of Ataxia
The symptoms of ataxia can vary depending on the type and severity of the condition. Some common symptoms of ataxia include:
- Lack of coordination in movement
- Difficulty in walking or standing
- Unsteady gait
- Tremors
- Slurred speech
- Difficulty in swallowing
- Abnormal eye movements
If you are experiencing any of these symptoms, it is recommended to consult a neurologist for further diagnosis.
Diagnosis of Ataxia
Ataxia can be diagnosed through a physical examination, medical history, and neurological tests. The Ataxia Panel NGS Genetic DNA Test is a specialized genetic test that can help in the diagnosis of ataxia. It is a non-invasive test that analyzes the DNA sequence of the patient to identify any genetic abnormalities that may be causing ataxia.
Ataxia Panel NGS Genetic DNA Test
The Ataxia Panel NGS Genetic DNA Test is a comprehensive genetic test that analyzes multiple genes associated with ataxia. It is a next-generation sequencing (NGS) test that provides accurate and reliable results. The test can detect mutations in genes such as SCA1, SCA2, SCA3, SCA6, SCA7, SCA17, and many others.
Cost of Ataxia Panel NGS Genetic DNA Test
The cost of the Ataxia Panel NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the location and the laboratory where the test is conducted.
Conclusion
Ataxia is a neurological disorder that can severely impact the quality of life of individuals. The Ataxia Panel NGS Genetic DNA Test is a specialized genetic test that can help in the diagnosis of ataxia. If you or your loved one is experiencing symptoms of ataxia, it is recommended to consult a neurologist and undergo the Ataxia Panel NGS Genetic DNA Test for accurate diagnosis and treatment.
An Ataxia Panel using Next-Generation Sequencing (NGS) technology is a genetic test that examines a set of genes associated with various types of ataxia, a group of neurological disorders characterized by impaired coordination and balance. The NGS approach allows for the simultaneous analysis of multiple genes, which can help identify potential genetic mutations or variants that might contribute to the development of ataxia.
The specific genes included in an Ataxia Panel can vary depending on the laboratory and the version of the panel being used. However, here are some examples of genes commonly included in an Ataxia NGS Panel:
- ATXN1: Associated with Spinocerebellar Ataxia Type 1 (SCA1).
- ATXN2: Associated with Spinocerebellar Ataxia Type 2 (SCA2).
- ATXN3: Associated with Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph Disease.
- ATXN7: Associated with Spinocerebellar Ataxia Type 7 (SCA7).
- ATXN8OS: Associated with Spinocerebellar Ataxia Type 8 (SCA8).
- ATXN10: Associated with Spinocerebellar Ataxia Type 10 (SCA10).
- ATXN17: Associated with Spinocerebellar Ataxia Type 17 (SCA17).
- CACNA1A: Associated with Spinocerebellar Ataxia Type 6 (SCA6) and episodic ataxia type 2.
- TBP: Associated with Spinocerebellar Ataxia Type 17 (SCA17).
- PRKCG: Associated with Spinocerebellar Ataxia Type 14 (SCA14).
- GRID2: Associated with Spinocerebellar Ataxia Type 27.
- SPG7: Associated with Spinocerebellar Ataxia Type 7 (SCA7).
The NGS process involves sequencing DNA from a patient's sample (usually blood or saliva) and analyzing the sequencing data to identify any pathogenic or potentially pathogenic mutations. The results of the test can provide insights into the genetic basis of the individual's ataxia, helping with diagnosis, prognosis, and treatment recommendations.
It's important to note that genetic testing, including NGS-based panels, is typically recommended and interpreted by medical professionals, genetic counsellors, or specialists who can provide appropriate guidance and counselling based on the results. The results of the test can be complex and require careful interpretation to determine their clinical significance.
