Signature Genomics Test Comparison Chart

Prenatal

SG Test # Test Name ARUP test Test # Test Name
1001 Precision Panel FISH CVS 0040203 Chorionic Villus, FISH
Notes: The Precision Panel is not available through ARUP, but FISH analysis (2002297 or 0040203) will look for aneuploidies of 13, 18, 21, X and Y.  If information about microdeletions is desired, fetal microarray can be performed as a stand-alone test (test #2002366) or as a reflex on amniotic fluid (test #2008367).  If the client wants testing for a specific microdeletion, this can be done using test #2002299 (client must specify the probe of interest; please see ARUP test directory for a list of available FISH probes).   
CHR FISHP 2002297 Chromosome FISH, Prenatal (amniotic fluid)
1002 Precision Panel + Karyotype FISH CVS 0040203 Chorionic Villus, FISH
Notes: The appropriate karyotype test (2002293, 2002291, 2002288) should be selected based on sample type. The Precision Panel is not available through ARUP, but FISH analysis (2002297 or 0040203) will look for aneuploidies of 13, 18, 21, X and Y.  If information about microdeletions is desired, fetal microarray can be performed as a stand-alone test (test #2002366) or as a reflex on amniotic fluid (test #2008367).  If the client wants testing for a specific microdeletion, this can be done using test #2002299 (client must specify the probe of interest; please see ARUP test directory for a list of available FISH probes).    
CHR FISHP 2002297 Chromosome FISH, Prenatal (amniotic fluid)
CHR AF 2002293 Chromosome Analysis, Amniotic Fluid
CHR CVS 2002291 Chromosome Analysis, Chorionic Villus
CHR POC 2002288 Chromosome Analysis, Products of Conception
1003 Precision Panel + Karyotype + AFP with reflex to AChE FISH CVS 0040203 Chorionic Villus, FISH
Notes: The appropriate karyotype test (2002293, 2002291, 2002288) should be selected based on sample type. The Precision Panel is not available through ARUP, but FISH analysis (2002297 or 0040203) will look for aneuploidies of 13, 18, 21, X and Y.  If information about microdeletions is desired, fetal microarray can be performed as a stand-alone test (test #2002366) or as a reflex on amniotic fluid (test #2008367).  If the client wants testing for a specific microdeletion, this can be done using test #2002299 (client must specify the probe of interest; please see ARUP test directory for a list of available FISH probes).       
CHR FISHP 2002297 Chromosome FISH, Prenatal (amniotic fluid)
CHR AF 2002293 Chromosome Analysis, Amniotic Fluid
CHR CVS 2002291 Chromosome Analysis, Chorionic Villus
CHR POC 2002288 Chromosome Analysis, Products of Conception
AFP AF 0080427 Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin
1003a Reflex: If Precision panel is normal, reflex to microarray (see notes)
Notes: The Precision Panel is not available through ARUP, but chromosome analysis with reflex to microarray (ARUP test #2008367) or FISH plus microarray [ARUP test #2002297 (amniotic fluid) or #0040203 (CVS) plus test #2002366] will identify all microdeletions and chromosome abnormalities identified by the Signature test #1003b 
1003b Reflex: If Precision Panel and karyotype are normal, reflex to microarray AF REFLEX 2008367 Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray
Notes: The Precision Panel is not available through ARUP, but chromosome analysis with reflex to microarray will identify all microdeletions and chromosome abnormalities identified by the Signature test #1003b 
2001 Signature PrenatalChip TE (targeted microarray) ARRAY FE 2002366 Cytogenomic SNP Microarray - Fetal
Notes: ARUP has one fetal microarray platform that is high density with SNP coverage.  For additional information, please refer to the ARUP Genetics Website and Additional Technical Information sheet.
2002 Signature PrenatalChip OS (high-density microarray) ARRAY FE 2002366 Cytogenomic SNP Microarray - Fetal
Notes: ARUP has one fetal microarray platform that is high density with SNP coverage.  For additional information, please refer to the ARUP Genetics Website and Additional Technical Information sheet.
2003 Signature PrenatalChipTE+SNP ARRAY FE 2002366 Cytogenomic SNP Microarray - Fetal
Notes: ARUP has one fetal microarray platform that is high density with SNP coverage.  For additional information, please refer to the ARUP Genetics Website and Additional Technical Information sheet.
2004 Signature PrenatalChipOS+SNP ARRAY FE 2002366 Cytogenomic SNP Microarray - Fetal
Notes: ARUP has one fetal microarray platform that is high density with SNP coverage.  For additional information, please refer to the ARUP Genetics Website and Additional Technical Information sheet.
3001 MCC Studies ARRAY MATC 2002369 Microarray, Genomic, Maternal Confirm
Notes: MCC studies are included in fetal microarray for on going pregnancies.  Test code is for maternal blood sample.
MCC MAT 0050608 Maternal Cell Contamination
Notes: MCC studies are included in Fragile X testing on fetal samples.  Test code is for maternal blood sample.  This test code may be appropriate for other molecular fetal testing.  
2005 Abridged (5 cell) Karyotype + Signature Microarray + MCC Studies (see notes)
Notes: ARUP offers karyotype (full study) and microarray either as reflex or simultaneously on prenatal samples.  For karyotype with reflex to array on amniotic fluid, order ARUP test #2008367.  For karyotype with reflex to array on POC, order ARUP test #2005762.  For karyotype and microarray simultaneously, order ARUP test #2002366 plus 2002293 (amniotic fluid) or 2002291 (CVS). 
3002 Karyotype CHR AF 2002293 Chromosome Analysis, Amniotic Fluid
Notes: Comparable
CHR CVS 2002291 Chromosome Analysis, Chorionic Villus
Notes: Comparable
CHR POC 2002288 Chromosome Analysis, Products of Conception
Notes: Comparable
3003 AFP with reflex to AChE AFP AF 0080427 Alpha Fetoprotien (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin
Notes: Comparable
3004 Single/Dual FISH CHR FISHM 2002299 Chromosome FISH, Metaphase
Notes: Comparable; client needs to specify desired probe when ordering
3005 Fragile X FX PCR FE 2009034 Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal
Notes: Comparable
3006 Parental analysis ARRAY FAM 2002301 Microarray Family Study by FISH
Notes: Copy of the proband's array report is required; please contact an ARUP genetic counselor prior to ordering

Postnatal

SG Test # Test Name ARUP test Test # Test Name
2005 SignatureChipOS CMA SNP 2003414 Cytogenomic SNP Microarray
ARUP's microarray platform contains SNPs for better detection of copy number changes and absense of heterozygosity.  Testing can be performed on peripheral blood (2003414) or buccal samples (2006267).
CMA BUCCAL 2006267 Cytogenomic SNP Microarray Buccal Swab
2006 SignatureChipOS + SNP CMA SNP 2003414 Cytogenomic SNP Microarray
Testing can be performed on peripheral blood (2003414) or buccal samples (2006267).
CMA BUCCAL 2006267 Cytogenomic SNP Microarray Buccal Swab
3007 Karyotype CHR PB 2002289 Chromosome Analysis, Peripheral Blood
Test should be selected based on sample type
CHR R/OM 2002287 Chromosome Analysis, Rule Out Mosaicism
CHR SKIN 2002286 Chromosome Analysis, Skin biopsy
3008 Single/Dual FISH CHR FISHM 2002299 Chromosome FISH, Metaphase
Comparable; client needs to specify desired probe when ordering
3009 Fragile X (Screen with reflex to Diagnostic) FRAG X PCR 2009033 Fragile X (FMR1) with Reflex to Methylation Analysis
Comparable 
3010 Parental analysis ARRAY FAM 2002301 Microarray Family Study by FISH
Copy of the proband's array report is required; please contact an ARUP genetic counselor prior to ordering