Angelman Syndrome: (15q11q13) FISH Analysis
Test code: CASS
TAT: 28 days
A cytogenetic test used to identify identify deletions or duplications in chromosome region 15q11q13.
Cytogenetics
Chromosome Analysis (Bone Marrow)
Test code: CBMR
TAT: 10 days
A cytogenetic test on bone marrow, used in assessing remission or relapse of malignancy in individuals with myelodysplastic syndrome, acute myeloid leukemia, acute lymphoblastic leukemia, or lymphoproliferative disorders.
Chromosome Analysis (Stimulated/Unstimulated Blood)
Test code: CBSU
TAT: 10 days
A cytogenetic test on stimulated/unstimulated cultures, used in assessing remission or relapse of malignancy and/or to determine the presence or absence of abnormal clones.
Chromosome Analysis, High Resolution (Blood)
Test code: CBHR
TAT: 21 days
A cytogenetic test used to detect subtle or cryptic chromosome structural rearrangements at a high resolution.
Chromosome Analysis, High Resolution; Rule Out Mosaic (Blood)
Test code: CBHM
TAT: 21 days
A cytogenetic test used to detect subtle chromosomal structural rearrangements at a higher resolution and lower level of mosaicism.
Chromosome Analysis, Routine (Amniotic Fluid)
Test code: CARO
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine (Blood)
Test code: CBRO
TAT: 21 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine (Chorionic Villus Sampling (CVS))
Test code: CCVR
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine (POC)
Test code: CCRP
TAT: 6 weeks
A cytogenetic test used to detect imbalances of genetic material that may explain the cause of a pregnancy loss.
Chromosome Analysis, Routine (Solid Tissue)
Test code: CSTR
TAT: 6 weeks
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine; Rule Out Mosaic (Amniotic Fluid)
Test code: CARM
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities at a larger count to assess for mosaicism.
Chromosome Analysis, Routine; Rule Out Mosaic (Blood)
Test code: CBRM
TAT: 21 days
A cytogenetic test used to detect chromosomal abnormalities at larger count.
Chromosome Analysis, Routine; Rule Out Mosaic (POC)
Test code: CPLM
TAT: 6 weeks
A cytogenetic test used to detect imbalances of genetic material that may explain the cause of a pregnancy loss.
Chromosome Analysis, Routine; Rule Out Mosaic (Solid Tissue)
Test code: CTRM
TAT: 6 weeks
A cytogenetic test used to detect chromosomal abnormalities at a larger count to assess for mosaicism.
Chromosome Analysis, Routine; Short Study (Amniotic Fluid)
Test code: CASH
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine; Short Study (Blood)
Test code: CBSS
TAT: 21 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine; Short Study (Chorionic Villus Sampling (CVS))
Test code: CCSS
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine; Short Study (POC)
Test code: CPLS
TAT: 6 weeks
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine; Short Study (Solid Tissue)
Test code: CTSS
TAT: 6 weeks
A cytogenetic test used to detect chromosomal abnormalities.
Cytogenomic Microarray
Test code: CCMA
TAT: 26 days
Prenatal Samples Accepted
A cytogenetic tests that provides genome-wide detection of copy number gains and losses.
DiGeorge/VCF: (22q11.2) FISH Analysis
Test code: C22Q
TAT: 28 days
A cytogenetic test used to identify deletions or duplications in chromosome region 22q11.2.
Disorders of Sexual Development: FISH Panel, Routine (Buccal) (includes SRY/Xcen & X/Y dual assay probes)
Test code: CBSR
TAT: 28 days
A cytogenetic test intended for patients with a diagnosis or clinical suspicion of a disorder of sexual development.
Disorders of Sexual Development: FISH Panel, Routine (includes SRY/Xcen & X/Y dual assay probes)
Test code: CXYA
TAT: 28 days
A cytogenetic test intended for patients with a diagnosis or clinical suspicion of a disorder of sexual development.
A cytogenetic test intended for patients with a diagnosis or clinical suspicion of a disorder of sexual development.
Disorders of Sexual Development: FISH Panel, Rule Out Mosaic (includes SRY/Xcen & X/Y dual assay probes)
Test code: CXYM
TAT: 28 days
A cytogenetic test intended for patients with a diagnosis or clinical suspicion of a disorder of sexual development.
Optical Genome Mapping – Complete
Test code: COGM
TAT: 28 days
A cytogenetic test that detects several classes of structural variants at a higher resolution.
Optical Genome Mapping – FSHD1
Test code: COGF
TAT: 28 days
A cytogenetic test used to identify pathogenic contractions of the D4Z4 repeat array in FSHD1, with possible reflex testing for FSHD2.
Optical Genome Mapping – Targeted
Test code: COGT
TAT: 28 days
A cytogenetic test that detects structural variants at a higher resolution, and can be ordered to analyze specific gene(s) or region.
Prader-Willi Syndrome: (15q11q13) FISH Analysis
Test code: CPWS
TAT: 28 days
A cytogenetic test used to identify identify deletions or duplications in chromosome region 15q11q13.
Pregnancy Loss Microarray
Test code: CMPL
TAT: 26 days
A cytogenetic test used to detect imbalances of genetic material that may explain the cause of a pregnancy loss.
Prenatal Microarray
Test code: CMPD
TAT: 14 days
A cytogenetic test that detects copy number gains and losses.
Targeted Deletion/Duplication Analysis (qPCR)
Test code: CACC
TAT: 34 days
A cytogenetic test used to detect copy number variants (CNVs) identified in the proband via microarray.
Targeted Infertility Microarray
Test code: CMCI
TAT: 26 days
A cytogenetic test that analyzes certain regions of the Y chromosome associated with male infertility.
Trisomy 13 FISH, Rule Out Mosaic (Buccal)
Test code: CT13
TAT: 28 days
A cytogenetic test used to detect varying degrees of mosaicism in chromosome 13 aneuploidy.
Trisomy 18 FISH, Rule Out Mosaic (Buccal)
Test code: CT18
TAT: 28 days
A cytogenetic test used to detect varying degrees of mosaicism in chromosome 18 aneuploidy.
Trisomy 21 FISH, Rule Out Mosaic (Buccal)
Test code: CT21
TAT: 28 days
A cytogenetic test used to detect varying degrees of mosaicism in chromosome 21 aneuploidy.
Trisomy FISH Screen (13,18,21,X,Y) (Amniotic Fluid)
Test code: CTAF
TAT: 4 days
A cytogenetic test used to identify aneuploidies in chromosomes 13, 18, 21, X, and Y.
Trisomy FISH Screen (13,18,21,X,Y) (Blood)
Test code: CANE
TAT: 28 days
A cytogenetic test used to identify aneuploidies in chromosomes 13, 18, 21, X, and Y.
Trisomy FISH Screen (13,18,21,X,Y) (Chorionic Villus Sampling (CVS))
Test code: CTCV
TAT: 4 days
A cytogenetic test used to identify aneuploidies in chromosomes 13, 18, 21, X, and Y.