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ABCD1 gene mutation analysis - Analyte/Measurement Details

Names and Codes

LOINC® Long Common Name:1 ABCD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Analyte Short Name:2 ABCD1
LOINC Number:3 79568-2

Answer List

The results of the measurement are expressed using the following answer list.

LOINC
Answer
ID4
Answer Text5
LA25405-4 c.1415_1416delAG
LA25406-2 c.871G>A
LA25407-0 c.1165C>T
LA25408-8 c.1202G>A

Conditions

The analyte/measurement serves as a marker for the following conditions.

Condition6
Choose condition to view related measurements
Abbreviation6 Category7 SNOMED CT Code8 ICD-9-​CM Code9 ICD-10-​CM Code10 Affected Protein11 EC#12 UniProt Number13
X-linked Adrenoleukodystrophy X-ALD Core
65389002
277.9
E71.520
E71.522
E71.528
E71.529
ATP-binding cassette sub-family D member 1
N/A
P33897

Legend

1

LOINC Long Common Name — derived by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (LOINC®) Committee from the measurement's formal name by using conventional names for analytes and procedures. The long common name eliminates the parts of the formal name that are not needed to distinguish the test from related tests.

2

Analyte Short Name — an abbreviation for the analyte.

3

LOINC Number — the unique and permanent code assigned by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (LOINC®) Committee to identify the test measurement. LOINC codes are unique for different test methods and different units of reporting to enable interoperability and comparison of results from different labs. LOINC is a U.S. government standard for electronic health information exchange of laboratory tests and other measurements in Interoperability Specifications produced by the Healthcare Information Technology Standards Panel (HITSP).

4

LOINC answer ID — a code that identifies the specific answer choice for an analyte that has a fixed set of results.

5

Answer text — the specific answer choice for an analyte that has a fixed set of results.

6

Condition Name and Abbreviation — curated by the NLM and selected from among the names used by the Advisory Committee on Heritable Disorders in Newborns and Children (Committee), National Newborn Screening Information System (NNSIS), the American College of Medical Genetics (ACMG), the HHS Office of the National Coordinator for Health Information Technology (ONC)/American Health Information Community (AHIC) Personalized Health Care Work Group, and input from the newborn screening community.

7

Category — based on the U.S. Department of Health and Human Services (HHS) Recommended Uniform Screening Panel. Conditions designated as "core" should be included in every newborn screening program, and "secondary" conditions are some of the disorders that may be detected during screening for a core disorder. Conditions classified as "other" are those that are screened for by some states but are not part of the Recommended Uniform Screening Panel.

8

SNOMED CT® CodeSystematized Nomenclature of Medicine — Clinical Terms code is assigned by the International Health Terminology Standards Development Organisation (IHTSDO). SNOMED CT is a concept-oriented clinical terminology that has been designated as a U.S. standard for electronic health information exchange. The Newborn Screening Coding and Terminology Guide uses some codes from the US Extension to SNOMED CT.

9

ICD-9-CM CodeInternational Classification of Diseases, Ninth Revision, Clinical Modification code is assigned to diagnoses associated with hospital utilization in the U.S. It is a current US standard for use in administrative healthcare transactions. Although ICD-9-CM codes are fairly specific, in certain cases, the same ICD-9-CM code might apply to several disorders in the same group (e.g. amino acid disorders).

10

ICD-10-CM CodeInternational Classification of Diseases, Tenth Revision, Clinical Modification code. Although ICD-10-CM codes are fairly specific, in certain cases, the same ICD-10-CM code might apply to multiple related disorders.

11

Affected Protein — the structure that is abnormal in this condition. The affected protein could be an enzyme, a hormone, or a specific molecule such as hemoglobin or immunoglobulin chain. If the affected protein is an enzyme, it will have an Enzyme Commission (EC) number.

12

Enzyme Commission (EC) Number — a unique identifier for the affected enzyme (if the affected protein is an enzyme); the EC number is assigned by the Recommendations of the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology on the Nomenclature and Classification of Enzymes by the Reactions they CatalyseExternal Web Site Policy.

13

UniProt Number — a unique identifier assigned to all proteins, including enzymes, hemoglobin subunits, and immunoglobulin chains. The UniProt database is maintained by the Universal Protein ResourceExternal Web Site Policy, an international collaboration.

Record created: January 19, 2016