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NATIONAL HAEMOGLOBINOPATHY REFERENCE LABORATORY Molecular HaematologyDirector: Dr John Old, Path. Deputy Director: Dr. Shirley Henderson. PhD. Level4Sample reception: 01865 572769 Sec: 01865 572826 Email:
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To fill out the genotyping of haemoglobin disorders, follow these steps:
02
Collect the blood sample from the patient.
03
Prepare the blood sample by separating the red blood cells from the plasma.
04
Extract DNA from the red blood cells using a DNA extraction kit.
05
Amplify the specific regions of DNA associated with haemoglobin disorders using PCR.
06
Perform gel electrophoresis or other methods to separate and visualize the amplified DNA fragments.
07
Analyze the DNA fragments using techniques like DNA sequencing or restriction fragment length polymorphism (RFLP) analysis.
08
Compare the obtained DNA sequence or fragment patterns with known reference sequences or patterns to identify the specific mutations or variants associated with haemoglobin disorders.
09
Interpret the results and report the genotyping findings.
10
Consult with a medical geneticist or specialist for further interpretation and guidance if needed.

Who needs genotyping of haemoglobin disorders?

01
Genotyping of haemoglobin disorders is needed for individuals who exhibit symptoms or are suspected to have a haemoglobin disorder.
02
This includes individuals with a family history of haemoglobin disorders, individuals from high-risk ethnic or geographic populations, and individuals with abnormal haemoglobin test results.
03
Genotyping helps in assessing the type and severity of the haemoglobin disorder, determining carrier status, providing reproductive counseling, and facilitating appropriate management and treatment.
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Genotyping of haemoglobin disorders is a process of identifying genetic variations in the genes responsible for haemoglobin production.
Medical professionals and researchers involved in the diagnosis and treatment of haemoglobin disorders are required to file genotyping reports.
Genotyping of haemoglobin disorders can be done through genetic testing using techniques such as PCR or DNA sequencing.
The purpose of genotyping of haemoglobin disorders is to identify specific genetic mutations that may be causing the disorder in an individual.
Genotyping reports must include information on the specific genetic variations identified, as well as any relevant clinical data.
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