AutoICD API

98038-3

Laboratory

CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis in Blood or Tissue by Molecular genetics method

Definition

Reproductive carrier screening is performed during preconception or prenatally to determine the risk for passing on serious inherited genetic conditions to a child. Most carrier screening is for recessive disorders. This test includes screening for the following conditions: cystic fibrosis (CF, CFTR gene), fragile X (FXS, FMR1 gene), and spinal muscular atrophy (SMA, SMN1 gene).

LOINC 6-Axis Classification

Component

CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

Molgen

Details

Class

MOLPATH

Order/Observation

Both

Short Name

CFTR+FMR1+SMN1 Mut Anl Bld/T

Display Name

CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis Molgen Doc (Bld/Tiss)

Related Names

ABC35ABCC7BCD541BloodCBAVDCFCFACFTR/MRPCFTR+FMR1+SMN1 Mut AnlCystic fibrosis transmembrane conductance regulatorcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)dJ760C5.1DocumentFindingFindingsFMR1 CGGFMRPFragile XFragile X mental retardation 1Fragile X syndromeFRAXAGemin 1GEMIN1GynGynecologyKugelberg-Welander diseaseMolecular geneticsMolecular pathologyMOLPATHMRP7MutMutationsOBObGynObstetricsPCRPOFPOF1Point in timeRandomSMASMA geneSMA@SMA1SMA2SMA3SMA4SMNSMNTSMVspinal muscular atrophySurvival motor neuron protein genesurvival of motor neuron 1, telomericT-BCD541TDRD16ATissueTissue, unspecifiedTNR-CFTRWBWerdnig-Hoffmann diseaseWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 98038-3?

LOINC code 98038-3 identifies "CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis in Blood or Tissue by Molecular genetics method". Reproductive carrier screening is performed during preconception or prenatally to determine the risk for passing on serious inherited genetic conditions to a child. Most carrier screening is for recessive disorders. This test includes screening for the following conditions: cystic fibrosis (CF, CFTR gene), fragile X (FXS, FMR1 gene), and spinal muscular atrophy (SMA, SMN1 gene).

What does 98038-3 measure?

This code measures CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.

What is LOINC?

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.