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

CFTR+FMR1+SMN1 Mut Anl Bld/T

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).

ABC35; ABCC7; BCD541; Blood; CBAVD; CF; CFA; CFTR/MRP; CFTR+FMR1+SMN1 Mut Anl; Cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); dJ760C5.1; Document; Finding; Findings; FMR1 CGG; FMRP; Fragile X; Fragile X mental retardation 1; Fragile X syndrome; FRAXA; Gemin 1; GEMIN1; Gyn; Gynecology; Kugelberg-Welander disease; Molecular genetics; Molecular pathology; MOLPATH; MRP7; Mut; Mutations; OB; ObGyn; Obstetrics; PCR; POF; POF1; Point in time; Random; SMA; SMA gene; SMA@; SMA1; SMA2; SMA3; SMA4; SMN; SMNT; SMV; spinal muscular atrophy; Survival motor neuron protein gene; survival of motor neuron 1, telomeric; T-BCD541; TDRD16A; Tissue; Tissue, unspecified; TNR-CFTR; WB; Werdnig-Hoffmann disease; Whole blood; Whole blood or Tissue

ABC35
ABCC7
BCD541
Blood
CBAVD
CF
CFA
CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis
CFTR+FMR1+SMN1 Mut Anl
CFTR/MRP
Cystic fibrosis transmembrane conductance regulator
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
dJ760C5.1
Document
Finding
Findings
FMR1 CGG
FMRP
Fragile X
Fragile X mental retardation 1
Fragile X syndrome
FRAXA
Gemin 1
GEMIN1
Gyn
Gynecology
Kugelberg-Welander disease
Molecular genetics
Molecular pathology
MOLPATH
MRP7
Mut
Mutations
OB
ObGyn
Obstetrics
PCR
POF
POF1
Point in time

23 further terms