Page 1 of 4
Name : F/O. NEESHA SHARMA Lab ID : KT40900202837 CRM: 223002972137
SHUBAM SHARMA Sample Collection Date : 06-09-2024 11:20
Age : NA Sample Receipt Date : 07-09-2024 09:00
DOB : NA Reporting Date : 09-09-2024 17:38
Gender : UNKNOWN Location : Jammu
Referring Physician : Dr. LT COL SUVENDU NAYAK
Hospital Name : Treatwell Diagnostic
Initial Report Duplicate Report Revised Report Version No 1
QF-PCR ANALYSIS REPORT
Sample Type : Amniotic Fluid
Quality of Sample : Acceptable
Gestational Age : 16 WEEKS 5 DAYS
Clinical Indication : The fetus sample is referred for QFPCR testing to rule out chromosomal aneuploidy
Test Requested : Aneuploidy
RESULTS
List of Syndromes Aneuploidy
Pataus syndrome (Trisomy 13) Not detected
Edward syndrome (Trisomy 18) Not detected
Downs syndrome (Trisomy 21) Not detected
Gonosomal Aneuploidy Not detected
NOTE
Maternal Cell Contamination No significant MCC detected
Interpretation : Electrophoretogram analysis for chromosome specific markers indicates a normal complement of 13, 18,
21 and sex chromosomes.
LifeCell International Pvt Ltd,No: 26, Vandalur-Kelambakkam Main Road,Keelakottaiyur, Chennai - 600127
This is an electronically authenticated report.
MC-2088 Page 1 of 7
Page 2 of 4
Name : F/O. NEESHA SHARMA Lab ID : KT40900202837 CRM: 223002972137
SHUBAM SHARMA Sample Collection Date : 06-09-2024 11:20
Age : NA Sample Receipt Date : 07-09-2024 09:00
DOB : NA Reporting Date : 09-09-2024 17:38
Gender : UNKNOWN Location : Jammu
Referring Physician : Dr. LT COL SUVENDU NAYAK
Hospital Name : Treatwell Diagnostic
Initial Report Duplicate Report Revised Report Version No 1
Electrophoretogram
LifeCell International Pvt Ltd,No: 26, Vandalur-Kelambakkam Main Road,Keelakottaiyur, Chennai - 600127
This is an electronically authenticated report.
MC-2088 Page 2 of 7
Page 3 of 4
Name : F/O. NEESHA SHARMA Lab ID : KT40900202837 CRM: 223002972137
SHUBAM SHARMA Sample Collection Date : 06-09-2024 11:20
Age : NA Sample Receipt Date : 07-09-2024 09:00
DOB : NA Reporting Date : 09-09-2024 17:38
Gender : UNKNOWN Location : Jammu
Referring Physician : Dr. LT COL SUVENDU NAYAK
Hospital Name : Treatwell Diagnostic
Initial Report Duplicate Report Revised Report Version No 1
QF-PCR METHODOLOGY
Quantitative fluorescence PCR (QF-PCR) is a reliable molecular method for rapid aneuploidy diagnosis. DNA was isolated from the given sample
using a commercial kit according to manufacturer͛s instructions. Multiplex PCR amplification of short tandem repeat (STR) markers using
fluorescent tagged primer was carried out using a commercial kit according to manufacturer͛s instructions. The resulting fragments were
analysed on the genetic analyser for visualization and quantification. The copy number of respective chromosome is quantified by calculating
the relative allele ratio. Analysed region includes: D13S742, D13S634, D13S628, D13S305, D13S1492, D18S978, D18S535, D18S386, D18S976,
GATA178F11, D21S1435, D21S11, D21S1411, D21S1444, D21S1442, D21S1437.
Limitations:
1. Detection of structural chromosomal abnormalities including but not limited to balanced and unbalanced translocations is not possible by
QF-PCR.
2. Sensitivity & specificity of the assay may be influenced by the quality of the specimens received at the laboratory. Samples with significant
mosaicism and maternal cell contamination may impact the diagnostic accuracy of QF-PCR
Disclaimer:
1. The given test result should be interpreted in context of all available clinical findings.
2. As per the PRE-NATAL DIAGNOSTIC TECHNIQUES (REGULATIONS & PREVENTION OF MISUSE) AMENDMENT ACT 2002, sex determination shall not be done for all prenatal samples.
3. The assay is limited to detecting changes only within the target sequence of the markers and is unable to identify balanced rearrangements occurring outside of this sequence.
4. Karyotype analysis is necessary to characterize the abnormality and assess the risk of recurrence in cases of aneuploidy.
5. Deletions and partial monosomy are not detected. Low-level mosaicism may not be detected.
6. Assay may not detect rearrangements and mosaicism involving the tested chromosomes.
7. Results obtained with any IVD Kit should only be employed and interpreted within the whole clinical picture. Lifecell cannot be considered responsible for any clinical decisions taken.
8. An aneuploidy test result can only be directly applied to the tissue tested and may not represent the fetal karyotype.
9. The results specifically pertain to the examined sample and may not accurately represent the fetal chromosome constitution in instances of confined placental mosaicism or when the
sample is contaminated with maternal cells.
10. Despite taking all necessary precautions during DNA-based tests, the technical error rate for all types of DNA analysis is approximately 2%. Therefore, it is crucial to interpret all
results within this context before taking any action based on these results.
11. The report is generated within a specific timeframe known as the turnaround time (TAT) once received the sample received at the lab. However, the actual TAT may differ based on
the complexity of the requested test(s) and the information provided along with the sample. Lifecell cannot be held responsible for any delays beyond the mentioned TAT.
12. In certain rare cases, genetic tests may not provide accurate results, for example, when the quality of the sample given to Lifecell is not optimal. Suppose a test performed by Lifecell
fails due to unforeseen or unknown reasons beyond their control. In that case, Lifecell cannot be held responsible for any incomplete, potentially misleading, or incorrect results that
were not foreseeable beforehand.
13. Lifecell Pvt. Ltd has validated the test and determined its performance characteristics in accordance with the CAP/ACMG and NABL guidelines. All investigations have their limitations
which are imposed by the limits of sensitivity & specificity of individual assay procedures as well as the quality of the specimen received by the laboratory.
14. Clinical interpretation of given test results should be evaluated within the context of the patient͛s medical history and other diagnostic laboratory test results.
15. The present report comprises a genetic analysis of the sample provided. It is important to note that this report cannot be accurately interpreted without information regarding
clinical features and other laboratory reports, and investigations. The information contained herein should not be considered a substitute for professional medical advice or diagnosis. It
is highly recommended to consult with a qualified healthcare professional or medical pecialist for a comprehensive evaluation and interpretation of your specific medical condition.
This document is for clinical interpretation and not for medico-legal purpose.
References:
1. American College of Medical Genetics-Standards and Guidelines for Clinical Genetics Laboratories, 2006 Edition
2. Schrijver, I., Cherny, S.C., and Zehnder, J.L. Testing for Maternal Cell Contamination in Prenatal Samples. Journal of Molecular Diagnostics 2007, 9(3):394-400.
3. Stoiilkovic-Mikic, T., Mann, K., Docherty, Z., and Oqilivie, C.M. Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping. Prenatal Diagnosis 2005, 25(1):79-83.
LifeCell International Pvt Ltd,No: 26, Vandalur-Kelambakkam Main Road,Keelakottaiyur, Chennai - 600127
This is an electronically authenticated report.
MC-2088 Page 3 of 7
Page 4 of 4
Name : F/O. NEESHA SHARMA Lab ID : KT40900202837 CRM: 223002972137
SHUBAM SHARMA Sample Collection Date : 06-09-2024 11:20
Age : NA Sample Receipt Date : 07-09-2024 09:00
DOB : NA Reporting Date : 09-09-2024 17:38
Gender : UNKNOWN Location : Jammu
Referring Physician : Dr. LT COL SUVENDU NAYAK
Hospital Name : Treatwell Diagnostic
Initial Report Duplicate Report Revised Report Version No 1
----------End Of Report------------
[Link] MSc. Ph.D DR. CHIRAYU PADHIAR, M.B.B.S..:
DCP (G25442)
Senior Manager Lab Director
LifeCell International Pvt Ltd,No: 26, Vandalur-Kelambakkam Main Road,Keelakottaiyur, Chennai - 600127
This is an electronically authenticated report.
MC-2088 Page 4 of 7
Page 1 of 3
Name : F/O. NEESHA SHARMA Lab ID : 40900202837 CRM : 223002972137
SHUBAM SHARMA Sample Collection Date : 06-09-2024 11:20
Age : NA Sample Receipt Date : 07-09-2024 09:00
DOB : NA Reporting Date : 23-09-2024 18:38
Gender : UNKNOWN Location : JAMMU
Referring Physician : Dr. LT COL SUVENDU NAYAK
Hospital Name : Treatwell Diagnostic
MUTATION CONFIRMATION BY SANGER SEQUENCING
Details Remarks
Sample Type Amniotic Fluid + EDTA
Quality of Sample Acceptable
Gestational Age NOT AVAILABLE
Clinical Indication Variant c.584+1G>A in MMAB gene in Heterozygous state was detected in the couple
(Likely Pathogenic). Amniotic Fluid sample from present pregnancy is being evaluated
for this variant.
Test Requested Sanger Sequencing
RESULTS
Fig.
Sample Name Gene Name Variant Tested Variant Status Inheritance
No
Fetus of Present Autosomal
1. MMAB chr12:c.584+1G>A
NEESHA SHARMA (Heterozygous) Recessive
INTERPRETATION
A heterozygous variant chr12:c.584+1G>A in the MMAB gene is detected in the provided Fetus sample and the
Fetus is likely to be carrier for the tested variant.
TEST INFORMATION
Fig 1: This assay tests for the confirmation of variant in the provided prenatal sample which has been detected in
MMAB gene in Index Patient. Analysis is performed only for variant at c.584+1G>A in MMAB gene.
RECOMMENDATION
Please correlate clinically and genetic counselling is recommended.
METHODOLOGY
Targeted sequencing and mutation analysis was performed by Polymerase Chain Reaction (PCR) followed by
automated DNA sequencing of the amplicon using BigDye ABI Genetic Analyzer 3500DX platform. The raw data
obtained is subsequently analyzed for the nucleotide variants.
DISCLAIMER
The results specifically pertain to the examined sample and may not accurately represent the fetal
chromosome constitution in instances of confined placental mosaicism or when the sample is
contaminated with maternal cells.
Processed At:-LifeCell International Pvt Ltd,No: 26, Vandalur-Kelambakkam Main Road,Keelakottaiyur, Chennai - 600127
This is an Electronically Authenticated Report.
F/O. NEESHA SHARMA
Page 5 of 7
223002972137
Page 1 of 3
Page 2 of 3
Name : F/O. NEESHA SHARMA Lab ID : 40900202837 CRM : 223002972137
SHUBAM SHARMA Sample Collection Date : 06-09-2024 11:20
Age : NA Sample Receipt Date : 07-09-2024 09:00
DOB : NA Reporting Date : 23-09-2024 18:38
Gender : UNKNOWN Location : JAMMU
Referring Physician : Dr. LT COL SUVENDU NAYAK
Hospital Name : Treatwell Diagnostic
Despite taking all necessary precautions during DNA-based tests, the technical error rate for all types of
DNA analysis is approximately 2%. Therefore, it is crucial to interpret all results within this context before
taking any action based on these results.
The report is generated within a specific timeframe known as the turnaround time (TAT) once received the
sample received at the lab. However, the actual TAT may differ based on the complexity of the requested
test(s) and information provided along with the sample. Lifecell cannot be held responsible for any delays
that occur beyond the mentioned TAT.
In certain rare cases, genetic tests may not provide accurate results, for example, when the quality of the
sample given to Lifecell is not optimal. If a test performed by Lifecell fails due to unforeseen or unknown
reasons beyond their control, Lifecell cannot be held responsible for any incomplete, potentially misleading,
or incorrect results that were not foreseeable beforehand.
Lifecell Pvt. Ltd has validated the test and determined its performance characteristics in accordance with
the CAP/ACMG and NABL guidelines. All investigations have their limitations which are imposed by the
limits of sensitivity & specificity of individual assay procedures as well as the quality of the specimen
received by the laboratory.
Clinical interpretation of given test result should be evaluated within the context of the patients medical
history and other diagnostic laboratory test results.
The present report comprises genetic analysis of the sample provided. It is important to note that this
report cannot be accurately interpreted without information regarding clinical features and other
laboratory reports, investigations. The information contained herein should not be considered a substitute
for professional medical advice or diagnosis. It is highly recommended to consult with a qualified healthcare
professional or medical specialist for a comprehensive evaluation and interpretation of your specific
medical condition.
This test is designed to detect mutations in the above-mentioned regions only. Sequences surrounding the
regions of interest are analyzed but not reported. In rare cases, allele dropout can cause heterozygosity to
be reported as homozygosity. This phenomenon occurs when one of the alleles fails to amplify during the
genetic testing process,
This assay is unable to differentiate between cis and trans mutations. Though oligos are designed
specifically to parent gene using bioinformatics tool, Interference of pseudogene sequence cannot be ruled
out completely. Any change in primer binding site can result and interfere with the results and allele
dropout cannot be ruled out using this experiment.
Diagnostic errors can occur due to rare sequence variations. In some cases, variants may not be identified
due to technical limitations caused by the presence of pseudogenes, various transcript ID, repetitive, or
homologous regions.
This document is for clinical interpretation and not for medico-legal purpose
Note: As per the prenatal diagnostic techniques (Regulations & prevention of misuse) Amendment
Act 2002, sex determination shall not be done for all prenatal samples.
Processed At:-LifeCell International Pvt Ltd,No: 26, Vandalur-Kelambakkam Main Road,Keelakottaiyur, Chennai - 600127
This is an Electronically Authenticated Report.
F/O. NEESHA SHARMA
Page 6 of 7
223002972137
Page 2 of 3
Page 3 of 3
Name : F/O. NEESHA SHARMA Lab ID : 40900202837 CRM : 223002972137
SHUBAM SHARMA Sample Collection Date : 06-09-2024 11:20
Age : NA Sample Receipt Date : 07-09-2024 09:00
DOB : NA Reporting Date : 23-09-2024 18:38
Gender : UNKNOWN Location : JAMMU
Referring Physician : Dr. LT COL SUVENDU NAYAK
Hospital Name : Treatwell Diagnostic
ANNEXURE
Fig1: Sanger sequencing data (electropherogram) for the provided prenatal sample showing nucleotide change at
chr12:c.584+1G>A in MMAB gene.
Note: No significant MCC was detected in this sample.
Processed At:-LifeCell International Pvt Ltd,No: 26, Vandalur-Kelambakkam Main Road,Keelakottaiyur, Chennai - 600127
This is an Electronically Authenticated Report.
F/O. NEESHA SHARMA
Page 7 of 7
223002972137
Page 3 of 3
