Scribd Logo
Upload

Welcome to Scribd!

  • 100 views

    DR Lal Pathlabs: Interpretation

    Uploaded by

    subrahmanyam
    This document contains the lab test results for a 55-year-old male patient named Dummy G126. The test performed was for Niemann Pick disease, which is measured through quantitative enzyme assay of sphingomyelinase activity in blood. The patient's results showed an activity level of greater than 3 nmol/hr/mg, which is within the normal range. Niemann Pick disease is a lysosomal storage disease caused by deficiency of the sphingomyelinase enzyme and can present in several types with varying severity from fatal in childhood to surviving into adulthood.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd

    DR Lal Pathlabs: Interpretation

    Uploaded by

    subrahmanyam
    100 views2 pages
    This document contains the lab test results for a 55-year-old male patient named Dummy G126. The test performed was for Niemann Pick disease, which is measured through quantitative enzyme assay of sphingomyelinase activity in blood. The patient's results showed an activity level of greater than 3 nmol/hr/mg, which is within the normal range. Niemann Pick disease is a lysosomal storage disease caused by deficiency of the sphingomyelinase enzyme and can present in several types with varying severity from fatal in childhood to surviving into adulthood.

    Original Title

    G126

    Copyright

    © © All Rights Reserved

    Available Formats

    PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    This document contains the lab test results for a 55-year-old male patient named Dummy G126. The test performed was for Niemann Pick disease, which is measured through quantitative enzyme assay of sphingomyelinase activity in blood. The patient's results showed an activity level of greater than 3 nmol/hr/mg, which is within the normal range. Niemann Pick disease is a lysosomal storage disease caused by deficiency of the sphingomyelinase enzyme and can present in several types with varying severity from fatal in childhood to surviving into adulthood.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    100 views2 pages

    DR Lal Pathlabs: Interpretation

    Uploaded by

    subrahmanyam
    This document contains the lab test results for a 55-year-old male patient named Dummy G126. The test performed was for Niemann Pick disease, which is measured through quantitative enzyme assay of sphingomyelinase activity in blood. The patient's results showed an activity level of greater than 3 nmol/hr/mg, which is within the normal range. Niemann Pick disease is a lysosomal storage disease caused by deficiency of the sphingomyelinase enzyme and can present in several types with varying severity from fatal in childhood to surviving into adulthood.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    You are on page 1of 2

    .

    LPL - LPL-ROHINI (NATIONAL REFERENCE


    LAB)
    SECTOR - 18, BLOCK -E ROHINI
    DELHI 110085

    Name : DUMMY G126 Collected : 21/8/2020 2:12:00PM


    Received : 21/8/2020 2:31:46PM
    Lab No. : 152800273 Age: 55 Years Gender: Male Reported : 22/8/2020 1:48:53PM
    A/c Status : P Ref By : UNKNOWN Report Status :

    Test Name Results Units Bio. Ref. Interval

    s
    NIEMANN PICK DISEASE, QUANTITATIVE, BLOOD
    (Enzyme Assay)
    Patient Value nmol/hr/mg >3.00

    ab
    Control Value nmol/hr/mg

    Interpretation
    ------------------------------------------------------------------

    L
    | SPHINGOMYELINASE ACTIVITY | REMARKS |
    |----------------------------|-------------------------------------|
    | >3 | Normal activity
    th |
    |----------------------------|-------------------------------------|
    | 1.5-3 | Possibility of carrier state likely|
    |----------------------------|-------------------------------------|
    | <1.5 | Deficient activity |
    ------------------------------------------------------------------
    Pa
    Note
    1. Results should be clinically correlated as individual / biological variations can affect the
    test results
    2. Genetic counseling available with prior appointment at Department of Genetics,
    National Reference Lab, New Delhi
    al

    Comments
    Niemann Pick disease (Types A & B) is a lysosomal storage disease caused by deficiency of enzyme
    Sphingomyelinase. It is inherited as an autosomal recessive disorder.
    rL

    Type A disease is characterized by jaundice, progressive loss of motor skills, feeding and learning difficulties
    and hepatosplenomegaly. It usually presents within 1-4 months of age and death occurs by 3 years.
    Type B disease is milder though variable in clinical presentation. Most of these patients do not have
    neurological involvement and survive upto adulthood.
    Type C disease is a lysosomal lipid storage disease presenting usually in middle to late childhood. It is
    D

    characterized by vertical gaze palsy, ataxia, dystonia, behavioural problems and dementia.

    PatientReportSCSuperPanel.GENERAL_PANEL_ANALYTE_SC (Version: 6)

    Page 1 of 2

    *152800273*
    .

    LPL - LPL-ROHINI (NATIONAL REFERENCE


    LAB)
    SECTOR - 18, BLOCK -E ROHINI
    DELHI 110085

    Name : DUMMY G126 Collected : 21/8/2020 2:12:00PM


    Received : 21/8/2020 2:31:46PM
    Lab No. : 152800273 Age: 55 Years Gender: Male Reported : 22/8/2020 1:48:53PM
    A/c Status : P Ref By : UNKNOWN Report Status :

    Test Name Results Units Bio. Ref. Interval

    s
    ab
    Dr Himangshu Mazumdar Dr.Kamal Modi Dr Nimmi Kansal
    MD, Biochemistry MD, Biochemistry MD, Biochemistry
    Senior Consultant - Clinical Chemistry Consultant Biochemist National Head - Clinical Chemistry &
    & Biochemical Genetics NRL - Dr Lal PathLabs Ltd Biochemical Genetics
    NRL - Dr Lal PathLabs Ltd NRL - Dr Lal PathLabs Ltd

    L
    Result/s to follow:
    NIEMANN PICK DISEASE, QUANTITATIVE, BLOOD
    th IMPORTANT INSTRUCTIONS

    *Test results released pertain to the specimen submitted .*All test results are dependent on the quality of the sample received by the Laboratory .
    Pa
    *Laboratory investigations are only a tool to facilitate in arriving at a diagnosis and should be clinically correlated by the Referring Physician .*Sample
    repeats are accepted on request of Referring Physician within 7 days post reporting.*Report delivery may be delayed due to unforeseen
    circumstances. Inconvenience is regretted.*Certain tests may require further testing at additional cost for derivation of exact value. Kindly submit
    request within 72 hours post reporting.*Test results may show interlaboratory variations .*The Courts/Forum at Delhi shall have exclusive
    jurisdiction in all disputes/claims concerning the test(s) & or results of test(s).*Test results are not valid for medico legal purposes. * Contact
    customer care Tel No. +91-11-39885050 for all queries related to test results.
    (#) Sample drawn from outside source.
    al
    rL
    D

    PatientReportSCSuperPanel.GENERAL_PANEL_ANALYTE_SC (Version: 6)

    Page 2 of 2

    *152800273*

    You might also like