Genetic analysis for hemoglobin-related disorders via next-generation sequencing (NBS)
This test checks for genetic variations linked to blood disorders involving hemoglobin, the protein in red blood cells that carries oxygen. It helps identify conditions like sickle cell disease, thalassemia, or other hereditary hemoglobinopathies.
["This test helps diagnose blood disorders passed through families and guides treatment planning."]
Key facts at a glance
- LOINC
- 57703-1
- Short code
- Hemoglobin disorders NBS comment
- Synonyms
- Hemoglobin disorders NBS comment
- Category
- hematology
- Sample
- serum
- Container
- Red-top tube (SST)
- Units
- N/A
- Ref low
- 12
- Ref high
- 17.5
- Critical range
- 7 N/A – 20 N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- CPT
- 85018
- SNOMED
- 900000000000003004
- Specimen volume
- 5 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 4–24 hours
- Order
- routine
Why This Test Matters for You
Hemoglobin disorders can cause symptoms like fatigue, pain, or anemia, especially if inherited. Early detection through genetic testing can confirm a diagnosis and help manage symptoms before they worsen.
How the Test Works
Blood or saliva samples are collected and analyzed using advanced sequencing technology. This identifies specific genetic changes in hemoglobin-related genes, such as HBB (common in sickle cell disease) or other variants linked to disorders.
What to Expect Before the Test
No special preparation is needed. A healthcare provider will collect a small blood or saliva sample, similar to a routine blood draw or cheek swab. Results are typically available within 1–2 weeks.
What the Results Mean
Results may show normal genetic variants, a confirmed diagnosis of a hemoglobin disorder, or variants that require further evaluation by a specialist. A doctor will interpret results in the context of your symptoms and family history.
Reference range
Adult males: 13.5-17.5 g/dL; Females: 12.0-16.0 g/dLN/A
No special preparation required. Stay well hydrated.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying hemoglobin disorders early allows for targeted treatments, such as blood transfusions, medications, or lifestyle adjustments. Some disorders may also affect pregnancy planning or require genetic counseling for families.
Short name
Hemoglobin Disorder Genetic Test
Frequently asked questions
Will this test show all possible hemoglobin disorders?
How long will I need to wait for results?
Can I get this test if I don’t have symptoms?
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