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beta Thalassemia
Clinical Genetic Test
Help
offered by
Dr. Zeinali's Medical Genetics Lab
GTR Test Accession: Help GTR000591269.2
HEMATOLOGYINHERITED DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2022-08-02
View version history
Last annual review date for the lab: 2023-08-04 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-implantation genetic diagnosis
Conditions (11): Help
Thalassemia minor; Beta thalassemia intermedia; Beta-thalassemia major more...
Genes (1): Help
HBB (11p15.4)
Methods (4): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
We test ARMS technique with other like Sange sequencing to …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Dr. Zeinali's Medical Genetics Lab
View lab's website
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Buffy coat
  • Cell culture
  • Cell-free DNA
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Bones, hard tissues, hair shafts
  • Paraffin block
  • Peripheral (whole) blood
  • Plasma
  • Product of conception (POC)
  • Saliva
  • Serum
  • Skin
  • Urine
  • White blood cell prep
Who can order: Help
  • Physician Assistant
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Physicians, Genetic Counselors and in some cases Health Care Providers can order the tests.
For DNA fingerprinting matters families can come directly to the lab or samples can be sent to us. They have to write to us first to send them sapling kit.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Balanced Chromosome Rearrangement Studies
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Genetic counseling
Identity Testing
Marker Chromosome Identification
Maternal cell contamination study (MCC)
PGS
Preimplantation Genetic Diagnosis (PGD)
Result interpretation
Specimen Source Identification
Uniparental Disomy (UPD) Testing
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 11
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 4
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Other
Linkage analysis
Multiplex PCR
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of select exons
ARMS
Sequence analysis of the entire coding region
PCR
Thermocycler and Genetic Analyzer
Clinical Information
Test purpose: Help
Diagnosis; Pre-implantation genetic diagnosis
Clinical validity: Help
We test ARMS technique with other like Sange sequencing to test its sensitivity. Each method is validated by other methods and other parameters.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Family study, looking at the database of more than 15000 Iranian Whole Genome Results, Searching bioinformatic tools Following suggestions by the ACMG guideline Since in Iran there are high number of consanguinity, we can track the gene by haplotyping using STRs linked to the gene in which VUS has been … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. If needed other sibs, parents and grandparents as well as affected or normal children are also tested.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. In most cases we contact the physicians by phone and sometimes by writing. We prefer phone since we can explain it further or make questions. Sometimes the physicians contact us and we provide them with explanation. Through these years we have learnt to provide extra information to them and also … View more
Research:
Is research allowed on the sample after clinical testing is complete? Help
Sometimes new mutations or VUS found need more investigation. In these cases our R&D department or PhD students carry out research for more in dept analysis
Recommended fields not provided:
Clinical utility, Target population, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
First we test for more common mutation by ARMS method or gap PCR for known deletion or duplication mutation; if no mutation is found we test for other point mutation by sequencing of three exons and if no mutation is found we test for deletion and duplication by MLPA. We … View more
View citations (4)
  • Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Newton CR, et al. Nucleic Acids Res. 1989;17(7):2503-16. doi:10.1093/nar/17.7.2503. PMID: 2785681.
  • Sharifi Z, Rahiminejad F, Joudaki A, Bandehi AS, Farahzadi H, Keshvar Y, Golnabi F, Naderi S, Yazdani R, Shafaat M, Ghadami S, Abiri M, Zeinali S. Development and validation of a novel panel of 16 STR markers for simultaneous diagnosis of β-thalassemia, aneuploidy screening, maternal cell contamination detection and fetal sample authenticity in PND and PGD/PGS cases. Sci Rep. 2019;9(1):7452. doi:10.1038/s41598-019-43892-2. Epub 2019 May 15. PMID: 31092881.
  • Amplification Refractory Mutation System (ARMS) Maj Gen (R) Suhaib Ahmed, HI (M) at: http://grcpk.com/wp-content/uploads/2014/10/7.-ARMS.pdf
  • https://www.mrcholland.com/product/P102/1450 for MLPA for Beta-thalassemia
Test Confirmation: Help
We confirm each result either by having other positive controls, repeating the tests, using multiple approaches like ARMS and linkage analysis as well as repeating tests. For sequencing we do bidirectional sequencing. Each sample is authenticated by using linked STRs as well as other STRs from other chromosomes as described … View more
Test Comments: Help
No, what had been said above is enough
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house

Test performance comments
We also provide tests for other lab if requested. Our lab acts as a reference lab for alpha- and beta-thalassemia because of intensive research and test experience as well as professor Zeinali had been the head of National Reference Lab for Prenatal Diagnosis of Thalassemia at Pasteur Institute of Iran
Analytical Validity: Help
We have been testing beta-thalassemia cases for the past 20 years and more than 4000 prenatal diagnosis has been perforemd. The accuracy of these test results have provided use with accuracy or reliablility rates
View citations (2)
  • A Large Cohort Study of Genotype and Phenotype Correlations of Beta- Thalassemia in Iranian Population. Maryami F, et al. Int J Hematol Oncol Stem Cell Res. 2015;9(4):198-202. PMID: 26865931.
  • Sharifi Z, Rahiminejad F, Joudaki A, Bandehi AS, Farahzadi H, Keshvar Y, Golnabi F, Naderi S, Yazdani R, Shafaat M, Ghadami S, Abiri M, Zeinali S. Development and validation of a novel panel of 16 STR markers for simultaneous diagnosis of β-thalassemia, aneuploidy screening, maternal cell contamination detection and fetal sample authenticity in PND and PGD/PGS cases. Sci Rep. 2019;9(1):7452. doi:10.1038/s41598-019-43892-2. Epub 2019 May 15. PMID: 31092881.
Assay limitations: Help
ARMS can not detect all mutations Sequencing may not detect all mutations due to ADO Sequencing can not tel if a mutation is VUS or pathogenic MLPA can only detect deletion and duplication Linkage analysis can not confirm if Beta-globin gene carries mutation
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

PT Provider: Help
Between labs and also EQA by the Ministry of Health

Description of PT method: Help
Unknown samples as EQA samples are given to each lab in the network by the Iranian Ministry of Health to each lab in a yearly basis. The labs in the network are also audited yearly.

Description of internal test validation method: Help
Sometimes a known sample is given to each person in the molecular genetic section like prenatal diagnosis section as a new sample with new name to see if the other person in the lab finds the same results. In other cases the same is doe with the DNA sequencing section, … View more
VUS:
Software used to interpret novel variations Help
Several software and databases including SIFT, PolyPhen, splice finder, HGMD database

Laboratory's policy on reporting novel variations Help
If family study and if possible population study also linkage analysis does not help we would seek others consultation and look at papers or other databases. If still no help can be gained then we will discuss this with the family and try to see if they can postpone pregnancy … View more
Recommended fields not provided:
Citations to support assay limitations, Citations to support internal test validation method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.