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LPL - LPL-ROHINI (NATIONAL REFERENCE LAB)

SECTOR - 18, BLOCK -E ROHINIDELHI 110085

Name DUMMY N146 Collected 29/7/2020 12:00:00AM

Received 29/7/2020 6:25:24PM

Lab No. 153672637 Age: 33 Years Gender: Male Reported 31/7/2020 3:35:33PM

A/c Status P Ref By: UNKNOWN Report Status Final

TEST CONDUCTED SPINOCEREBELLAR ATAXIA TYPE 12

(PCR, Fragment analysis)

RESULTS

SPINOCEREBELLAR PP2R2B gene CAG Repeats PP2R2B gene CAG Repeats Allele
ATAXIA TYPE 12 Allele 1 2
NOT DETECTED 30 30

Interpretation
--------------------------------------------------------------------------
| RESULT | REMARKS (As per reference Bahl et al., 2005) |
|--------------------|-----------------------------------------------------|
| Detected | Indicates >51 CAG repeats in the sample submitted |
|--------------------|-----------------------------------------------------|
| Grey Zone | Indicates 32-51 CAG repeats in the sample submitted |
| -------------------|-----------------------------------------------------|
| Not Detected | Indicates <32 CAG repeats in the sample submitted |
|--------------------|-----------------------------------------------------|
| Indeterminate | Indicates presence of inherent inhibitors in the |
| | sample submitted |
--------------------------------------------------------------------------

Note
1. Results must be interpreted in context with clinical findings, family history and other relevant laboratory
data
2. This is an in-house developed assay
3. Test conducted on EDTA whole blood
4. Genetic Counselling and clinical correlation is recommended.

Comment
Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia (ADCA) characterized by
progressive degeneration of cerebellum, brain stem and spinal cord. SCA12 is caused by an expansion in a
CAG repeat in the PPP2R2B gene located on chromosome 5q32. Age of onset ranges from 8-55 years. Most
individuals present in the fourth decade with upper extremity tremor, progressing over several decades to
include head tremor, gait ataxia, dysmetria, dysdiadokinesis, hyperreflexia, axial dystonia, facial myokymia,
paucity of movement, abnormal eye movements, and in the older subjects, dementia. Symptoms may include
subclinical sensory or sensorimotor neuropathy. MRI and CT scan report may show cortical and cerebellar
atrophy. In the presence of clinical findings consistent with SCA12, an expansion of 51 or more CAG triplets
within PPP2R2B is diagnostic.

References
Bahl, S., Virdi, K., Mittal, U., Sachdeva, M. P., Kalla, A. K., Holmes, S. E., O'Hearn, E., Margolis, R. L., Jain,

PatientReportSCSuperPanel.FLOWCYTO_DYNAMIC_SC (Version: 6)

*153672637*
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LPL - LPL-ROHINI (NATIONAL REFERENCE LAB)

SECTOR - 18, BLOCK -E ROHINIDELHI 110085

Name DUMMY N146 Collected 29/7/2020 12:00:00AM

Received 29/7/2020 6:25:24PM

Lab No. 153672637 Age: 33 Years Gender: Male Reported 31/7/2020 3:35:33PM

A/c Status P Ref By: UNKNOWN Report Status Final

S., Srivastava, A. K., Mukerji, M. Evidence of a common founder for SCA12 in the Indian population. Ann.
Hum. Genet. 69: 528-534, 2005. [PubMed: 16138911]

Dr Anand Chandrasekaran Annan Dr Atul Thatai

MD (American Board of Pathology) PhD, Biotechnology
PhD (Molecular & Cellular Pathology) HOD Molecular Diagnostics
HOD - Oncopathology NRL - Dr Lal PathLabs Ltd

-------------------------------End of report --------------------------------

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(#) Sample drawn from outside source.

PatientReportSCSuperPanel.FLOWCYTO_DYNAMIC_SC (Version: 6)

*153672637*
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