SCA-12 (spinocerebellar ataxia): PPP2R2B Gene Mutation Test Cost & Procedure

SCA12 is an autosomal dominant ataxia which is an advanced, dissipative hereditary infection with numerous varieties. In SCA12 there is a CAG trinucleotide repetition in chromosome 5q32.

Examination instructions

Specialty: Neurologist

>> Ingredients: *PPP2R2B Gene

>> Department: MOLECULAR DIAGNOSTICS

Exporting Stability: Room Temperature: 360 min, cold storage: 7 days, chilled: NA

PreTest Information

A duly replenished Genomics Clinical Information Requisition Form (Form 20) stands compulsory.

Detail Description

SCA12 is an autosomal dominant ataxia which is an advanced, dissipative hereditary infection with numerous kinds. In SCA12 there is a CAG trinucleotide repetition in chromosome 5q32.

Method

Twenty-one successive patients with genetically ascertained SCA12 underwent a detailed neurological analysis. We assessed clinical traits using validated rating rankings for assessing motor characteristics in SCA.

Outcomes

The temblor was the most common initial presenting manifestation (90%). Hand dystonia was current in fourteen to twenty-one patients, and most patients in the cohort presented with gait disturbance.

SCA-12 (Spinocerebellar Ataxia): PPP2R2B Gene Mutation:-

This examination will enable you in the premature detection of minor to major infections and bodily illnesses. A comprehensive body checkup is deemed crucial for people aged thirty years or above to avoid future fitness hazards. At Labs, you can get a full body check-up with wide-ranging fitness examination packets in India that comprise a full inspection of body strategies and organs like the Liver, Lungs, Heart, etc.

>> Sample Type: Blood, half-day dieting needed.

Residence Collection: Possible

Advantage from SCA-12 (Spinocerebellar Ataxia): PPP2R2B Gene Mutation:

Labs professionals will accomplish this Package Collection & processing, which comprises blood testing. All of the examinations will be carried out at their labs, which are spread all over India. Fitness education is both helpful and dependable.

• An examination of your chances of evolving illness.
• Prematurely detection of a potentially life-threatening fitness condition.
• Boost the opportunities for early therapy and, in some cases, a remedy.
• Consistent monitoring of pre-existing medical situations to reduce the hazard of difficulties.
• If you enhance your lifestyle, the outcomes of both check-ups can enable you to live lengthier.
• Avoiding expensive crisis therapies to keep your overall healthcare expenses down.