Genetic sequencing of full blood panel for mutations in hereditary hemoglobinopathies (e.g., sickle cell disease, thalassemia)
This test checks for genetic changes in blood-related proteins that may cause inherited blood disorders, such as abnormal hemoglobin production.
["Helps identify genetic risks for conditions like sickle cell disease or thalassemia that may affect blood health."]
Key facts at a glance
- LOINC
- 77117-0
- Short code
- RPGRIP1 Full Mut Anl Bld/T Seq
- Synonyms
- RPGRIP1 Full Mut Anl Bld/T Seq
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- sequencing
- Specimen volume
- 3 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
What This Test Measures
The test analyzes DNA from your blood sample to detect specific mutations in genes responsible for hemoglobin production. These mutations can lead to conditions where red blood cells don’t function properly, causing symptoms like anemia or pain crises.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have a family history of hemoglobin disorders, certain blood-related symptoms, or if you’re planning pregnancy and there’s a risk of hereditary blood conditions in your family.
Sample Collection and Preparation
A small blood sample will be taken from your arm. The DNA from your blood cells is extracted and sent to a lab for genetic sequencing. Results are typically available within 1–2 weeks.
What to Expect Before the Test
No special preparation is needed, but inform your provider about any medications you’re taking or recent illnesses, as they may affect results.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying these mutations can confirm a diagnosis of hereditary hemoglobin disorders, guide treatment decisions, and help family members understand their risk. Early detection may allow for prenatal testing or preventive measures if applicable.
Short name
Hereditary hemoglobin mutation sequencing
Frequently asked questions
What does a positive result mean?
Will I need follow-up tests if my results are positive?
Can lifestyle changes help if I have a mutation?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy