ALPL Gene Mutation Analysis, Whole Blood
A blood-based genetic test that looks for variants in the ALPL gene, which can affect bone mineralization and alkaline phosphatase activity.
["This test analyzes blood DNA for ALPL gene variants that may cause inherited bone mineralization disorders."]
Key facts at a glance
- LOINC
- 77085-9
- Short code
- ALPL Fam Mut Anl Bld/T
- Synonyms
- ALPL Fam Mut Anl Bld/T
- 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
- molgen
- 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 examines DNA from a blood sample for changes, called variants, in the ALPL gene. The ALPL gene provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase, which is important in bone mineralization.
Why might I need this test?
ALPL genetic testing may be ordered when a child or adult has unexplained low alkaline phosphatase, weak or abnormal bones, or a family history of an inherited bone disorder. It may also help clarify whether a suspected familial ALPL variant is present.
How is the test performed?
A blood sample is collected, and its DNA is analyzed in a laboratory. Depending on the laboratory and the ordered test, selected ALPL variants or multiple areas of the ALPL gene may be examined.
How do I prepare for the test?
This is usually a standard blood draw and does not require fasting. Follow any laboratory-specific instructions, particularly if you have recently received a blood transfusion or are taking blood-thinning medication.
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 clinically significant ALPL variant may be associated with hypophosphatasia or related disorders of bone mineralization. A variant that is considered likely pathogenic can support a diagnosis, but results must be interpreted with symptoms, other laboratory findings, and sometimes family testing. A negative result does not exclude every ALPL-related condition because some variants may not be included in the test.
Short name
ALPL genetic testing
Frequently asked questions
Is this the same as a routine alkaline phosphatase blood test?
What does a positive ALPL result mean?
Will this test detect every ALPL gene variant?
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