94210-2 |
ARSB gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
ARSB gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94210-2 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
ARSB Full Mut Anl Bld/T Seq |
|
|
|
|
|
arylsulfatase B; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; G4S; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; MPS6; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94211-0 |
NPC1 gene+NPC2 gene deletion+duplication & full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94211-0 |
|
Molgen |
|
|
Both |
|
|
|
0 |
NPC1+NPC2 Del+Dup + Full Mut Anl Bld/T |
|
|
|
|
|
Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; Niemann-Pick disease, type C1; NPC; NPC intracellular cholesterol transporter 1; NPC1+NPC2; PCR; POGZ; Point in time; Random; sequencing of entire coding region; SLC65A1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94212-8 |
PKLR gene deletion+duplication & full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
PKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94212-8 |
|
Molgen |
|
|
Both |
|
|
|
0 |
PKLR gene Del+Dup + Full Mut Anl Bld/T |
|
|
|
|
|
Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PK1; PKL; PKR; PKRL; Point in time; Pyruvate kinase 1 gene; Pyruvate kinase isozymes R/L gene; pyruvate kinase, liver and RBC; Pyruvate kinase, liver and RBC gene; Random; Red cell/liver pyruvate kinase gene; RPK; R-type/L-type pyruvate kinase gene; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94213-6 |
PPOX gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
PPOX gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94213-6 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
PPOX Full Mut Anl Bld/T Seq |
|
|
|
|
|
Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; hypocretin neuropeptide precursor; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; NRCLP1; OX; Point in time; PPOX; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94214-4 |
PRKAR1A gene deletion+duplication & full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
PRKAR1A gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94214-4 |
|
Molgen |
|
|
Both |
|
|
|
0 |
PRKAR1A Del+Dup + Full Mut Anl Bld/T |
|
|
|
|
|
ACRDYS1; ADOHR; Amplification; Blood; CAR; CNC; CNC1; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PKR1; Point in time; PPNAD1; PRKAR1; protein kinase cAMP-dependent type I regulatory subunit alpha; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; TSE1; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94215-1 |
PRSS1 gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
PRSS1 gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94215-1 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
PRSS1 gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
Blood; Cationic trypsinogen; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Hereditary pancreatitis; Heredity; Heritable; high-throughput sequencing; HPC; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; PCTT; Point in time; protease, serine, 1 (trypsin 1); Random; sequencing of entire coding region; Tissue; Tissue, unspecified; TRP1; TRY1; TRY4; TRYP1; Trypsin 1 precursor; Trypsinogen 1; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94216-9 |
STK11 gene deletion+duplication & full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
STK11 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94216-9 |
|
Molgen |
|
|
Both |
|
|
|
0 |
STK11 gene Del+Dup + Full Mut Anl Bld/T |
|
|
|
|
|
Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; hLKB1; Inherited; LKB1; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PJS; Point in time; Random; sequencing of entire coding region; serine/threonine kinase 11; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94217-7 |
TP53 gene deletion+duplication & full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
TP53 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94217-7 |
|
Molgen |
|
|
Both |
|
|
|
0 |
TP53 gene Del+Dup + Full Mut Anl Bld/T |
|
|
|
|
|
Amplification; BCC7; Blood; Cellular tumor antigen p53; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; LFS1; Li-Fraumeni syndrome; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; P53; PCR; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; TRP53; Tumor protein p53; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94218-5 |
UBE3A gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
UBE3A gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94218-5 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
UBE3A gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
ANCR; Angelman syndrome; AS; Blood; CTCL tumor antigen se37-2; Document; E6AP; E6-AP; EPVE6AP; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HPVE6A; HTS; human papilloma virus E6-associated protein; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; oncogenic protein-associated protein E6-AP; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; ubiquitin protein ligase E3A; Ubiquitin-protein ligase E3A; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94219-3 |
VWF gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
VWF gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94219-3 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
VWF gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
Blood; Document; F8VWF; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; von Willebrand factor; von Willebrand Factor gene; VWD; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
9422-7 |
Herpes simplex virus Ab.IgG |
ACnc |
Ser |
Pt |
Qn |
|
|
ACTIVE |
Herpes simplex virus IgG Ab [Units/volume] in Serum |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
9422-7 |
|
|
|
|
Both |
|
|
|
0 |
HSV IgG Ser-aCnc |
|
|
|
Y |
|
ABS; Aby; Antby; Anti; Antibodies; Antibody; Arbitrary concentration; Autoantibodies; Autoantibody; Herp splx; HSV; ID; Immune globulin G; Immunoglobulin G; Infectious Disease; InfectiousDisease; Microbiology; Point in time; QNT; Quan; Quant; Quantitative; Random; Serum; SR |
2.73 |
1.0i |
|
|
|
|
|
|
|
[arb'U]/mL |
|
|
|
0 |
94220-1 |
SPINK1 gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
SPINK1 gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94220-1 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
SPINK1 gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Pancreatic secretory trypsin inhibitor precursor; PCTT; Point in time; PSTI; Random; sequencing of entire coding region; serine peptidase inhibitor, Kazal type 1; Serine protease inhibitor, Kazal type 1; Spink3; TATI; TCP; Tissue; Tissue, unspecified; Tumor-associated trypsin inhibitor; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94221-9 |
SMN1 gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
SMN1 gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94221-9 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
SMN1 gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
BCD541; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Gemin 1; GEMIN1; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Kugelberg-Welander disease; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; 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; WB; Werdnig-Hoffmann disease; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94222-7 |
SERPINA1 gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
SERPINA1 gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94222-7 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
SERPINA1 gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
A1A; A1AT; AAT; Alpha-1-antitrypsin deficiency; alpha1AT; Anti-elastase gene; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; PI; PI1; Point in time; PRO2275; Protease inhibitor 1; Random; sequencing of entire coding region; Serine (or cysteine) proteinase inhibitor; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94223-5 |
PTEN gene deletion+duplication & full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
PTEN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94223-5 |
|
Molgen |
|
|
Both |
|
|
|
0 |
PTEN gene Del+Dup + Full Mut Anl Bld/T |
|
|
|
|
|
10q23del; Amplification; Bannayan-Zonana syndrome; Blood; BZS; CWS1; DEC; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; GLM2; Heredity; Heritable; Human mutated in multiple advanced cancers protein (MMAC1) mRNA, complete cds; Inherited; MGC11227; MHAM; MMAC1; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutated in multiple advanced cancers 1; Mutations; PCR; Phosphatase and tensin homolog; Point in time; PTEN1; Random; sequencing of entire coding region; TEP1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94224-3 |
RET gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
RET gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94224-3 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
RET gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
Blood; CDHF12; CDHR16; C-RET; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HSCR1; HTS; Inherited; MEN2A; MEN2B; Molecular pathology; MOLPATH; MTC1; Multiple endocrine neoplasia type IIa; Multiple endocrine neoplasia type IIb; Mut; Mutations; Next generation sequencing; NGS; Point in time; PTC; Random; ret proto-oncogene; RET51; RET-ELE1; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94225-0 |
TTR gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
TTR gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94225-0 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
TTR gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
Blood; CTS; CTS1; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; HEL111; Heredity; Heritable; high-throughput sequencing; HsT2651; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; PALB; Point in time; Random; sequencing of entire coding region; TBPA; Tissue; Tissue, unspecified; transthyretin; Transthyretin (prealbumin, amyloidosis type I) gene; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94226-8 |
PKHD1 gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
PKHD1 gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94226-8 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
PKHD1 gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
ARPKD; Blood; Document; FCYT; Fibrocystin gene; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive); Random; sequencing of entire coding region; TIGM1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94227-6 |
AGXT gene deletion+duplication & full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
AGXT gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94227-6 |
|
Molgen |
|
|
Both |
|
|
|
0 |
AGXT gene Del+Dup + Full Mut Anl Bld/T |
|
|
|
|
|
2q37.3; AGT; AGT1; AGXT1; alanine-glyoxylate aminotransferase; Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; L-alanine: glyoxylate aminotransferase 1; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; oxalosis I; PCR; PH1; Point in time; primary hyperoxaluria type 1; Random; sequencing of entire coding region; serine:pyruvate aminotransferase; SPAT; SPT; Tissue; Tissue, unspecified; TLH6; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94228-4 |
MUTYH gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
MUTYH gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94228-4 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
MUTYH gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; mutY (E. coli) homolog; mutY homolog; MYH; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94229-2 |
MECP2 gene deletion+duplication & full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
MECP2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94229-2 |
|
Molgen |
|
|
Both |
|
|
|
0 |
MECP2 gene Del+Dup + Full Mut Anl Bld/T |
|
|
|
|
|
Amplification; AUTSX3; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; MeCP-2 protein gene; methyl CpG binding protein 2; Methyl CpG binding protein 2 gene; Molecular genetics; Molecular pathology; MOLPATH; MRX16; MRX79; MRXS13; MRXSL; Mut; Mutations; PCR; Point in time; PPMX; Random; Rett syndrome; RS; RTS; RTT; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
9423-5 |
Nuclear Ab |
ACnc |
Ser |
Pt |
Qn |
IF |
|
ACTIVE |
Nuclear Ab [Units/volume] in Serum by Immunofluorescence |
|
MIN |
DefinitionDescription |
|
|
IU/mL |
|
|
|
|
|
|
SERO |
|
9423-5 |
|
IF |
|
|
Both |
|
|
|
0 |
ANA Ser IF-aCnc |
|
|
|
Y |
|
ABS; Aby; ACIF; ANA; ANF; Antby; Anti; Antibodies; Antibody; Anticomplement Immunofluorescence; Antinuclear antibody; Arbitrary concentration; Autoantibodies; Autoantibody; FA; FANA; Fluorescent antibody; Fluoresent; IFA; Immune fluorescence; Immunoflour; Immunofluor; Immunofluorescence; NA; Nuc; Point in time; QNT; Quan; Quant; Quantitative; Random; Serology; Serum; SR; Time Resolved Fluorescence; TRF |
2.73 |
1.0i |
|
|
|
|
|
|
|
[IU]/mL |
|
|
|
0 |
94230-0 |
GBA gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
GBA gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94230-0 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
GBA gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
Beta glucosidase gene; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Gaucher disease; GBA1; GBA1 (LL); GC (SP); GCB; Genetics; GLUC; GLUC (LL); Glucocerebrosidase gene; glucosidase, beta, acid; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94231-8 |
G6PD gene full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Sequencing |
|
ACTIVE |
G6PD gene full mutation analysis in Blood or Tissue by Sequencing |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94231-8 |
|
Sequencing |
|
|
Both |
|
|
|
0 |
G6PD gene Full Mut Anl Bld/T Seq |
|
|
|
|
|
Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; G6PD1; Genetics; glucose-6-phosphate dehydrogenase; Glucose-6-phosphate dehydrogenase gene; Glycogen storage disease; Gpd-1; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |
94232-6 |
FLCN gene deletion+duplication & full mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
FLCN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |
|
ADD |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH |
|
94232-6 |
|
Molgen |
|
|
Both |
|
|
|
0 |
FLCN gene Del+Dup + Full Mut Anl Bld/T |
|
|
|
|
|
Amplification; BHD; BHD skin lesion fibrofolliculoma protein; Birt-Hogg-Dube syndrome protein; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; DKFZp547A118; Document; Dp; Finding; Findings; FLCL; FLJ45004; FLJ99377; Folliculin; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; MGC17998; MGC23445; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.68 |
|
|
|
|
|
|
|
|
|
|
|
0 |