Alkaline Phosphatase (ALPL) Gene, Full Mutation Analysis, Whole Blood — DNA Sequencing
A blood-based DNA sequencing test that examines the ALPL gene for variants associated with inherited bone and mineral disorders, including hypophosphatasia.
["This test can identify certain inherited ALPL gene variants that may cause hypophosphatasia or related bone and mineral disorders."]
Key facts at a glance
- LOINC
- 77084-2
- Short code
- ALPL Full Mut Anl Bld/T Seq
- Synonyms
- ALPL Full Mut Anl Bld/T Seq
- Category
- liver
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Ref low
- 44
- Ref high
- 147
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- sequencing
- CPT
- 84075
- SNOMED
- 27550007
- 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 is this test?
This test analyzes DNA from a blood sample to look for changes, called variants, in the ALPL gene. This gene provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase, which is important for bone and mineral metabolism.
Why might I need this test?
It may be ordered when low alkaline phosphatase levels, unexplained bone abnormalities, or a family history suggest an inherited condition such as hypophosphatasia. Results may also help guide genetic counseling and evaluation of relatives.
How is the test performed?
A laboratory extracts DNA from the blood sample and analyzes the relevant portions of the ALPL gene using DNA sequencing. The findings are then interpreted for possible disease-causing, uncertain, or benign variants.
How do I prepare for the test?
This test usually requires only a blood draw and generally does not require fasting. Follow any instructions provided by the laboratory or ordering clinician, and tell them if you have had a recent blood transfusion.
Reference range
Adult: 44-147 U/LN/A
No special preparation required. Avoid fatty meals before the test if possible.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
A disease-causing or likely disease-causing ALPL variant may support a diagnosis of an inherited disorder affecting bone mineralization and alkaline phosphatase activity. A negative result does not rule out all genetic causes because testing may not detect every variant or may not examine all relevant regions. A variant of uncertain significance is not, by itself, considered proof of a genetic diagnosis.
Short name
ALPL Gene Full Mutation Analysis
Frequently asked questions
Does this test measure alkaline phosphatase levels?
Can this test diagnose hypophosphatasia?
Can a relative be tested based on my result?
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