3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing
Test code: DMC2
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the genes associated with 3-Methylcrotonylglycinuria.
Archives: Tests
Acid Sphingomyelinase Deficiency (ASMD): SMPD1 Sequencing
Test code: DSMP
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with acid sphingomyelinase deficiency (Niemann-Pick A/B disease).
Acylcarnitine Profile
Test code: BACY
TAT: 10 days
This biochemical test measures acylcarnitines for patients with a clinical suspicion of several fatty acid oxidation disorders and organic acidurias.
Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing
Test code: DABC
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with X-linked Adrenoleukodystrophy.
Alpha-mannosidosis Serum Oligosaccharide Analysis
Test code: BSAM
TAT: 21 days
This biochemical test measures oligosaccharides in patients with alpha-mannosidosis.
Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis
Test code: BAMNL, BAMND, BAMNF
TAT: 14 days
This biochemical test measures alpha-mannosidase enzyme activity.
Alpha-mannosidosis: MAN2B1 Sequencing
Test code: DMAN
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with alpha-mannosidosis.
Amino Acid Analysis, CSF
Test code: BCAA
TAT: 5 days
This biochemical test measures amino acids to help detect abnormalities associated with inborn errors of metabolism.
Amino Acid Analysis, Plasma
Test code: BPAA
TAT: 5 days
This biochemical test measures amino acids to help detect abnormalities associated with inborn errors of metabolism.
Amino Acid Analysis, Urine
Test code: BUAA
TAT: 7 days
This biochemical test measures amino acids to help detect abnormalities associated with inborn errors of metabolism.
Angelman Syndrome Methylation-Specific MLPA
Test code: DANG
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to detect methylation abnormalities and copy number variants associated with Angelman syndrome.
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.
Aortic Dysfunction/Dilation & Related Disorders NGS Panel
Test code: DAOR
TAT: 8 weeks
A panel of 20 genes intended for patients with a diagnosis or clinical suspicion of aortic dysfunction, dilation, and related disorders.
Aspartylglucosaminuria: AGA Sequencing
Test code: DAGA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with aspartylglucosaminuria.
Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis
Test code: BASGL, BASGP, BASGD
TAT: 14 days
This biochemical test measures aspartyglucosaminidase enzyme activity.
Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing
Test code: DCDN
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Beckwith-Wiedemann syndrome.
Beckwith-Wiedemann Syndrome Methylation-Specific MLPA
Test code: DBWM
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to detect methylation abnormalities or copy number variants associated with BWS.
Beta-mannosidosis: Beta-mannosidase Enzyme Analysis
Test code: BBMNL, BBMND, BBMNF
TAT: 14 days
This biochemical test measures beta-mannosidase enzyme activity.
Biotinidase Deficiency: Biotinidase Enzyme Analysis
Test code: BBTD
TAT: 10 days
This biochemical test measures biotinidase enzyme activity.
Biotinidase Deficiency: BTD Sequencing
Test code: DBTD
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with biotinidase deficiency.
C5-DC (Glutarylcarnitine) Analysis
Test code: BUC5
TAT: 10 days
This biochemical test measures urine glutarylcarnitine (C5-DC) in patients with glutaric acidemia.
Carnitine Analysis, Total and Free
Test code: BTFC
TAT: 10 days
This biochemical test measures free and total carnitine levels.
Carnitine Palmitoyltransferase IA Deficiency: CPT1A Sequencing
Test code: DCPT
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with carnitine palmitoyltransferase IA deficiency.
Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat
Test code: DPHO
TAT: 7 days
A molecular test used to identify pathogenic variants in the gene associated with central hypoventilation syndrome.
Central Hypoventilation Syndrome: PHOX2B Sequencing
Test code: DPHS
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with central hypoventilation syndrome.
Charcot-Marie-Tooth Disease Type 1A: PMP22 Deletion/Duplication MLPA
Test code: DCMD
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Charcot-Marie-Tooth disease type 1A.
Chitotriosidase Enzyme Analysis
Test code: BCHI
TAT: 10 days
This biochemical test that measures chitotriosidase enzyme activity.
Cholestasis NGS Panel
Test code: DCHO
TAT: 35 days
A panel of 74 genes intended for patients with a diagnosis or clinical suspicion of cholestasis.
Chromosome 14 UPD Analysis
Test code: DC14
TAT: 21 days
Prenatal Samples Accepted
A comparative analysis between the proband and parental samples for markers on chromosome 14.
Chromosome 15 UPD Analysis
Test code: DC15
TAT: 21 days
Prenatal Samples Accepted
A comparative analysis between the proband and parental samples for markers on chromosome 15.
Chromosome 7 UPD Analysis
Test code: DC07
TAT: 21 days
Prenatal Samples Accepted
A comparative analysis between the proband and parental samples for markers on chromosome 7.
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.
Comprehensive Cardiac NGS Panel
Test code: DCAR
TAT: 8 weeks
A panel of 127 genes intended for patients with a diagnosis or clinical suspicion of an inherited cardiac disorder.
Comprehensive Pulmonary NGS Panel
Test code: DCPP
TAT: 8 weeks
A panel of 147 genes intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorders.
Connective Tissue Disorders NGS Panel
Test code: DCTP
TAT: 8 weeks
A panel of 36 genes intended for patients with a diagnosis or clinical suspicion of a connective tissue disorder.
Connexin 26: GJB2 Sequencing
Test code: DGJB
TAT: 14 days
A molecular test used to identify varitants in the gene associated with Connexin 26-related hearing loss.
Connexin 26: GJB2 Targeted Analysis
Test code: DGJT
TAT: 14 days
Prenatal Samples Accepted
GJB2 targeted analysis is a molecular test used to identify known variants in the gene associated with Connexin 26-related hearing loss.
Craniosynostosis NGS Panel
Test code: DCRA
TAT: 35 days
Prenatal Samples Accepted
This panel of 8 genes is intended for patients with a diagnosis or clinical suspicion of craniosynostosis.
Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)
Test code: BCGP
TAT: 14 days
This biochemical test measures creatine and guanidinoacetate in plasma to screen for creatine biosynthesis disorders.
Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Urine)
Test code: BCGU
TAT: 14 days
This biochemical test measures creatine and guanidinoacetate in urine to screen for creatine biosynthesis disorders.
Creatine Transporter Deficiency: Creatine Analysis (Urine)
Test code: BUCN
TAT: 14 days
This biochemical test measures creatine/creatnine ratios in urine.
Cystic Fibrosis: CFTR Sequencing
Test code: DCFS
TAT: 28 days
CFTR sequencing is a molecular test used to identify variants in the gene associated with cystic fibrosis.
Cystic Fibrosis: CFTR Targeted Analysis
Test code: DCTM
TAT: 28 days
Prenatal Samples Accepted
CFTR targeted analysis is a molecular test used to detect a known variant associated with cystic fibrosis.
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.
Dilated & Arrhythmogenic Cardiomyopathy NGS Panel
Test code: DDCA
TAT: 8 weeks
A panel of 67 genes intended for patients with a diagnosis or clinical suspicion of an inherited cardiac disorder.
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.
Disorders of Somatic Mosaicism NGS Panel
Test code: DDSM
TAT: 8 weeks
An NGS panel of 56 genes intended for patients with a diagnosis or clinical suspicion of a disorder of somatic mosaicism.
Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA
Test code: DDMD
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify copy number variants in the gene associated with Duchenne or Becker muscular dystrophy.
Epilepsy/Seizure NGS Panel
Test code: DESP
TAT: 8 weeks
A panel of 165 genes intended for patients with a diagnosis of epilepsy or seizures.
EpiSign Complete
Test code: DEPI
TAT: 28 days
EpiSign Complete is the first clinical assay validated to detect unique epigenetic signatures and methylation abnormalities for over 90 recognized genetic conditions.
EpiSign Variant
Test code: DEPT
TAT: 28 days
EpiSign Variant is a targeted review of methylation data intended to resolve variants of uncertain clinical signficance in genes with a known epigenetic signature.
Fabry Disease: Alpha-galactosidase Enzyme Analysis
Test code: BAGLL, BAGLP, BAGLD, BAGLF
TAT: 14 days
This biochemical test measures alpha-galactosidase enzyme activity.
Fabry Disease: GLA Sequencing
Test code: DGLA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Fabry disease.
Familial Hypercholesterolemia NGS Panel
Test code: DFHP
TAT: 35 days
A panel of 4 genes intended for patients with a diagnosis or clinical suspicion of familial hypercholesterolemia.
Familial Hypercholesterolemia: LDLR Deletion/Duplication MLPA
Test code: DLDL
TAT: 14 days
A molecular test used to identify copy number variants in the LDLR gene associated with familial hypercholesterolemia.
Focused NGS – Panel (16-60 genes)
Test code: DFE4
TAT: 8 weeks
Prenatal Samples Accepted
A custom panel of 16-60 genes analyzed on the genome backbone.
Focused NGS – Panel (2-5 genes)
Test code: DFE2
TAT: 8 weeks
Prenatal Samples Accepted
A custom panel of 2-5 genes analyzed by using the genome backbone.
Focused NGS – Panel (6-15 genes)
Test code: DFE3
TAT: 8 weeks
Prenatal Samples Accepted
A custom panel of 6-15 genes analyzed by using the genome backbone.
Focused NGS – Single Gene
Test code: DFES
TAT: 35 days
Prenatal Samples Accepted
A custom single gene analysis on the genome backbone.
Fragile X Syndrome: FMR1 Methylation Analysis
Test code: DFMA
TAT: 21 days
A molecular test used to provide methylation status when previous testing FMR1 testing identified an expansion but did not include methylation status.
Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis
Test code: DFMR
TAT: 7-10 days
Prenatal Samples Accepted
FMR1 trinucleotide repeat analysis is a molecular test used to identify polymorphic (CGG) expansion repeat size in the gene associated fragile X syndrome.
Fucosidosis: Alpha-fucosidase Enzyme Analysis
Test code: BFUCL, BFUCD, BFUCF
TAT: 14 days
This biochemical test measures alpha-fucosidase enzyme activity.
Galactosemia: Galactose-1-Phosphate Analysis
Test code: BG1P
TAT: 10 days
This biochemical test measures galactose-1-phosphate to diagnose and monitor galactosemia.
Galactosemia: GALT Sequencing
Test code: DGAL
TAT: 10 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with galactosemia.
Gaucher Disease: Beta-glucosidase Enzyme Analysis
Test code: BBGUL, BBGUD, BBGUF
TAT: 14 days
This biochemical test measures beta-glucosidase enzyme activity.
Gaucher Disease: GBA Sequencing
Test code: DGBA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Gaucher disease.
Glutaric Acidemia Type I: GCDH Sequencing
Test code: DGCD
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with glutaric acidemia type I.
GM1 Gangliosidosis, Morquio Syndrome B (MPS IVB): Beta-galactosidase Enzyme Analysis
Test code: BBGLL, BBGLF, BBGLD
TAT: 14 days
This biochemical test measures beta-galactosidase enzyme activity.
GM1 Gangliosidosis/Morquio Syndrome B (MPS IVB): GLB1 Sequencing
Test code: DGLB
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with GM1 gangliosidosis/morquio syndrome B (MPS IVB).
GNAS Methylation-Specific MLPA
Test code: DGNA
TAT: 21 days
A molecular test used to detect copy number variants and methylation abnormalities within the GNAS complex locus.
Hearing Loss NGS Panel
Test code: DHLP
TAT: 8 weeks
A panel of 147 nuclear genes and 10 mitochondrial genes used for patients with a diagnosis or clinical suspicion of hearing loss.
Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel
Test code: DHPP
TAT: 8 weeks
A panel of 46 genes intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorder.
Homocysteine Analysis
Test code: BHOM
TAT: 10 days
This biochemical test measures plasma homocysteine in patients with homocystinuria.
Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA
Test code: DIDM
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Hunter syndrome (MPS II).
Hunter Syndrome (MPS II): IDS Sequencing
Test code: DIDS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Hunter syndrome (MPS II).
Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis
Test code: BIDSP, BIDSL, BIDSD, BIDSF
TAT: 14 days
This biochemical test measures iduronate-2-sulfatase enzyme activity.
Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis
Test code: BIDUL, BIDUP, BIDUD, BIDUF
TAT: 14 days
This biochemical test measures alpha-iduronidase enzyme activity.
Hurler Syndrome (MPS I): IDUA Sequencing
Test code: DIDU
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Hurler syndrome (MPS I).
Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS)
Test code: BMM1
TAT: 10 days
This biochemical test quantitatively measures total glycosaminoglycans, dermatan sulfate (uDS), and heparan sulfate (uHS).
Hydrops Enzyme Panel
Test code: BHYD
TAT: 28 days
This biochemical panel measures the activity of four enzymes associated with non-immune hydrops resulting from inborn errors of metabolism.
Krabbe Disease: Galactocerebrosidase Enzyme Analysis
Test code: BKRBD
TAT: 14 days
This biochemical test quantitatively measures galactocerebrosidase enzyme activity.
Krabbe Disease: GALC Sequencing
Test code: DGAC
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Krabbe disease.
Krabbe Disease: Psychosine Monitoring
Test code: BPSYD
TAT: 10 days
A biochemical test that measures psychosine levels in patients with a diagnosis or suspicion of Krabbe disease.
Long-Read Sequencing, Duo Analysis
Test code: DLRD
TAT: 10 weeks
This is a phenotype-driven analysis that can detect SNVs, CNVs, triplet repeat disorders, and rearrangements in genomic data from the proband and one family member.
Long-Read Sequencing, Singleton Analysis
Test code: DLRS
TAT: 10 weeks
This is a phenotype-driven analysis that can detect SNVs, CNVs, triplet repeat disorders, and rearrangements in genomic data from the proband.
Long-Read Sequencing, Trio Analysis
Test code: DLRT
TAT: 10 weeks
This is a phenotype-driven analysis that can detect SNVs, CNVs, triplet repeat disorders, and rearrangements in genomic data from the proband and two family members.
Lysosomal Storage Disease Enzyme Panel
Test code: BLSB
TAT: 21 days
This biochemical panel measures the activity of 13 enzymes associated with lysosomal storage diseases.
Lysosomal Storage Disease Enzyme Panel (DBS)
Test code: BLED
TAT: 21 days
This biochemical panel measures the activity of 12 enzymes associated with lysosomal storage diseases.
Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing
Test code: DARB
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Maroteaux-Lamy syndrome (MPS VI).
Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis
Test code: BASBL, BASBD, BASBF
TAT: 14 days
This biochemical test measures arylsulfatase B enzyme activity.
Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS)
Test code: BMM6
TAT: 10 days
This biochemical test measures total glycosaminoglycans and dermatan sulfate (uDS) component GAGs quantitiatively.
Maternal Cell Contamination
Test code: DMCC
TAT: 14 days
This molecular test is a comparative analysis between maternal and fetal DNA.
Maturity-Onset Diabetes of the Young (MODY) NGS Panel
Test code: DMOD
TAT: 8 weeks
This panel of 16 nuclear genes and 1 mitochondrial gene is intended for patients with a diagnosis or clinical suspicion of a condition associated with maturity-onset diabetes of the young.
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing
Test code: DACM
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with medium-chain acyl-CoA Dehydrogenase (MCAD) deficiency.
Metachromatic Leukodystrophy (MLD): Arylsulfatase A Enzyme Analysis
Test code: BASAD, BASAL, BASAF
TAT: 14 days
This biochemical test measures arylsulfatase A enzyme activity.
Metachromatic Leukodystrophy: ARSA Sequencing
Test code: DARA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with metachromatic leukodystrophy.
Mitochondrial DNA Variant Panel
Test code: DMVP
TAT: 5 weeks
A panel of 96 mitochondrial DNA variants intended for patients with a diagnosis or clinical suspicion of a mitochondrial disorder.
Morquio Syndrome (MPS IV) Enzyme Panel
Test code: BMQP, BMQD
TAT: 14 days
This biochemcial panel that measures the activity of two enzymes associated with morquio syndrome.
Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS)
Test code: BMM4
TAT: 10 days
A biochemical test that measures total glycosaminoglycans, keratan sulfate (uKS), and chondroitin sulfate (uCS).
Morquio Syndrome A (MPS IVA): GALNS Sequencing
Test code: DGAN
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with morquio syndrome A (MPS IVA) .
Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis
Test code: BMQAL, BMQAF, BMQAD
TAT: 14 days
This biochemical test measures N-acetylgalactosamine-6-sulfatase enzyme activity.
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Variant
Test code: DMTP
TAT: 28 days
mtDNA Targeted Analysis with heteroplasmy is a next generation sequencing test used to detect a previously identified mtDNA varient.
mtDNA Targeted Analysis: Known Familial Variant
Test code: DMTS
TAT: 14 days
mtDNA Targeted Analysis is a Sanger sequencing test used to detect a previously identified mtDNA variant.
Mucolipidosis II/III Enzyme Panel (DBS)
Test code: BDML
TAT: 10 days
This biochemical panel measures the activity enzymes to detect the elevations of hydrolases associated with mucolipidosis II/III.
Mucolipidosis II/III Enzyme Panel (Plasma)
Test code: BICL
TAT: 10 days
This biochemical panel measures the activity enzymes to detect the elevations of hydrolases associated with mucolipidosis II/III.
Mucopolysaccharidosis (MPS) Enzyme Panel
Test code: BMPP
TAT: 21 days
This biochemical panel measures the activity of ten enzymes associated with mucopolysaccharidosis.
Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)
Test code: BMPD
TAT: 21 days
This biochemical panel measures the activity of seven enzymes associated with mucopolysaccharidosis.
Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)
Test code: BMPS
TAT: 14 days
This biochemical test quantitatively measures total glycosaminoglycans (GAGs), dermatan sulfate (DS), chondroitin sulfatate (CS), keratan sulfate (KS), and heparan sulfate (HS).
Multiple Sulfatase Deficiency Enzyme Panel
Test code: BMDP, BMDD
TAT: 14 days
This biochemical panel measures the activity of three enzymes assocaited with multiple sulfatase deficiency.
Myotonic Dystrophy: DMPK Trinucleotide Repeat Analysis
Test code: DMYO
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify expanded CTG repeats in the gene associated with myotonic dystrophy.
Neurological Enzyme Panel
Test code: BNRP
TAT: 14 days
This biochemical panel measures the activity of 9 enzymes and is intended for patients with neurological symptoms associated with lysosomal diseases.
Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis
Test code: BPPTL
TAT: 14 days
This biochemical test measures palmitoyl-protein thiosterase 1 enzyme activity.
Neuronal Ceroid Lipofuscinosis 2 (CLN2): Tripeptidyl Peptidase 1 Enzyme Analysis
Test code: BTPPD
TAT: 14 days
This biochemical test measures tripeptidyl peptidase 1 enzyme activity.
Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis
Test code: BASMD
TAT: 14 days
This biochemical test measures acid sphingomyelinase enzyme activity.
Non-Immune Hydrops NGS Panel
Test code: DNHP
TAT: 8 weeks
Prenatal Samples Accepted
A panel of 108 genes intended for patients with a diagnosis or clinical suspicion of hydrops.
Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel
Test code: DOAH
TAT: 8 weeks
A panel of 18 genes intended for patients with a diagnosis or clinical suspicion of ocular albinism and Hermansky-Pudlak Syndrome and is performed by next generation sequencing.
Oligosaccharide Urine Analysis
Test code: BOLG
TAT: 21 days
This biochemical test screens for lysosomal storage diseases associated with oligosaccharidosis.
Oligosaccharidoses Enzyme Panel
Test code: BOSP, BOSD
TAT: 14 days
This biochemical panel measures the activity of enzymes associated with oligosaccharidosis.
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.
Organic Acid Analysis
Test code: BUOA
TAT: 10 days
This biochemical test measures organic acid to detect a variety of inborn errors of metabolism.
Orotic Acid Analysis
Test code: BORO
TAT: 10 days
This biochemical test measures orotic acid to clarify the cause of hyperammonemia.
Overgrowth/Macrocephaly NGS Panel
Test code: DOMP
TAT: 8 weeks
A panel of 16 genes intended for patients with a diagnosis of an overgrowth syndrome or macrocephaly.
Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Deletion/Duplication MLPA
Test code: DPLM
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Pelizaeus-Merzbacher disease, spastic paraplegia.
Phenylketonuria: PAH Sequencing
Test code: DPAH
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with phenylketonuria.
Pompe Disease, Glycogen Storage Disease II: Glucose Tetrasaccharide (Glc4) Urine Monitoring
Test code: BGL4
TAT: 10 days
A biochemical test that measures urine glucose tetrasaccharide (Glc4).
Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis
Test code: BAGUL, BAGUD, BAGUF
TAT: 14 days
This biochemical test measures alpha-glucosidase enzyme activity.
Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA
Test code: DMGA
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Pompe disease, or glycogen storage disease type II.
Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing
Test code: DGAA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with pompe disease, or glycogen storage disease type II.
Prader-Willi Syndrome Methylation-Specific MLPA
Test code: DPWS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to detect copy number variants and methylation abnormalities associated with Prader-Willi syndrome.
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 Exome Sequencing – Duo Analysis
Test code: DPE2
TAT: 21 days
Prenatal Samples Accepted
Prenatal exome sequencing (PES) is a phenotype-driven analysis available for patients with abnormal ultrasound findings.
Prenatal Exome Sequencing – Trio Analysis
Test code: DPE3
TAT: 21 days
Prenatal Samples Accepted
Prenatal exome sequencing (PES) is a phenotype-driven analysis available for patients with abnormal ultrasound findings.
Prenatal Exome Sequencing-XL – Duo Analysis
Test code: DPX2
TAT: 21 days
Prenatal Samples Accepted
Prenatal exome sequencing-XL (PES-XL) is available for patients with abnormal ultrasound findings.
Prenatal Exome Sequencing-XL – Trio Analysis
Test code: DPX3
TAT: 21 days
Prenatal Samples Accepted
Prenatal exome sequencing-XL (PES-XL) is available for patients with abnormal ultrasound findings.
Prenatal Microarray
Test code: CMPD
TAT: 14 days
A cytogenetic test that detects copy number gains and losses.
Primary Carnitine Deficiency, Systemic: SLC22A5 Sequencing
Test code: DS22
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with sytemic primary carnitine deficiency.
PTEN-Related Disorders: PTEN Deletion/Duplication MLPA
Test code: DPTM
TAT: 14 days
A molecular test used to detect copy number variants in the gene associated with PTEN-related disorders.
PTEN-Related Disorders: PTEN Sequencing
Test code: DPTS
TAT: 6 weeks
A molecular test used to identify variants in the gene associated with PTEN-related disorders.
PTEN-Related Disorders: PTEN Targeted Analysis
Test code: DPTT
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify known variants in the gene associated with PTEN-related disorders.
QUICK Analysis
Test code: DQUI
TAT: Contact lab
The QUICK Analysis is Greenwood’s free NGS-reflex analysis that rapidly screens full exome and genomoic data for pathogenic alterations when panel results are negative.
Rapid Whole Genome Sequencing
Test code: DRWG
TAT: 7 days
Rapid whole genome sequencing is an expedited and comprehensive, phenotype-driven genomic analysis for patients with unexplained medical conditions and the most urgent need for STAT results.
RASopathy NGS Panel
Test code: DRAO
TAT: 8 weeks
Prenatal Samples Accepted
A panel of 23 genes intended for patients with a diagnosis or clinical suspicion of a RASopathy syndrome.
Rett Syndrome: MECP2 Deletion/Duplication MLPA
Test code: DMEM
TAT: 14 days
A molecular test used to detect copy number variants in the gene associated with Rett syndrome.
Rett Syndrome: MECP2 Sequencing
Test code: DMES
TAT: 21 days
A molecular test used to identify variants in the gene associated with Rett syndrome.
Rett Syndrome: MECP2 Targeted Analysis
Test code: DMEC
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify known variants in the gene associated with Rett syndrome.
Rhabdomyolysis & Metabolic Myopathies NGS Panel
Test code: DRHA
TAT: 8 weeks
A panel of 47 genes intended for patients with a diagnosis or clinical suspicion of a condition associated with rhabdomyolysis or a metabolic myopathy.
Russell-Silver Syndrome Methylation-Specific MLPA
Test code: DRSM
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to detect copy number variants and methylation abnormalities associated with Russell-Silver syndrome.
Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA
Test code: DTWM
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Saethre-Chotzen syndrome.
Sanfilippo Syndrome (MPS III) Enzyme Panel
Test code: BSFP
TAT: 14 days
This biochemical panel measures the actitivity of 4 enzymes associated with sanfilippo syndrome (mucopolysaccharidosis III).
Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS)
Test code: BMM3
TAT: 10 days
A biochemical test that quantatively measures total glycosaminoglycans (GAGs) and heparan sulfate (HS).
Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis
Test code: BSFAL, BSFAF
TAT: 14 days
This biochemical test measures heparan-N-sulfatase enzyme activity.
Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing
Test code: DSGS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome A (MPS IIIA).
Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis
Test code: BSFBP, BSFBF, BSFBD
TAT: 14 days
This biochemical test measures N-acetyl-alpha-glucosaminidase enzyme activity.
Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing
Test code: DNAG
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome B (MPS IIIB).
Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis
Test code: BSFCL, BSFCF
TAT: 14 days
This biochemical test measures acetyl-CoA-glucosamine N-acetyltransferase enzyme activity.
Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing
Test code: DHGS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome C (MPS IIIC).
Sanfilippo Syndrome D (MPS IIID): GNS Sequencing
Test code: DGNS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome D (MPS IIID).
Sanfilippo Syndrome D (MPS IIID): N-Acetylglucosamine-6-Sulfatase Enzyme Analysis
Test code: BSFDL
TAT: 14 days
This biochemical test measures N-acetylglucosamine-6-sulfatase enzyme activity.
Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis
Test code: BSCHP, BSCHL, BSCHD
TAT: 14 days
This biochemical test measures acetylgalactosaminidase enzyme activity.
Sialic Acid Analysis, Total and Free
Test code: BSIA
TAT: 21 days
This biochemical test measures free sialic acid in urine as a screening tool for sialic aid disorders .
Sialidosis: NEU1 Sequencing
Test code: DNEU
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with sialidosis .
Sialidosis: Sialidase (Alpha-Neuraminidase) Enzyme Analysis
Test code: BSLDF
TAT: 28 days
This biochemical test measures sialidase enzyme activity.
Skeletal Dysplasia NGS Panel
Test code: DSDP
TAT: 35 days
Prenatal Samples Accepted
A panel of 11 genes intended for patients with a diagnosis or clinical suspicion of a skeletal dysplasia.
Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis
Test code: BBGCL, BBGCD, BBGCF
TAT: 14 days
This biochemical test measures beta-glucuronidase enzyme activity.
Sly Syndrome (MPS VII): GUSB Sequencing
Test code: DGUS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sly Syndrome (MPS VII).
Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS)
Test code: BMM7
TAT: 10 days
This biochemical test quantitatively measures total glycosaminoglycans, dermatan sulfate (uDS), and chondroitin sulfate (CS).
Sotos Syndrome: NSD1 Deletion/Duplication MLPA
Test code: DNSM
TAT: 14 days
A molecular test used to detect copy number variants in the gene associated with Sotos syndrome.
Spinal Muscular Atrophy: SMN1 Sequencing
Test code: DSMU
TAT: 21 days
A molecular test used to identify variant in the gene associated with spinal muscular atrophy (SMA).
Spinal Muscular Atrophy: SMN1 Targeted Analysis
Test code: DSMK
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify known variants in the gene associated with spinal muscular atrophy (SMA).
Spinal Muscular Atrophy: SMN1/SMN2 Deletion/Duplication MLPA
Test code: DSMN
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify copy number variants in the gene associated with spinal muscular atrophy (SMA).
Spinocerebellar Ataxia Expansion Panel
Test code: DSPP
TAT: 21 days
This panel of 5 genes is intended for patients with a clinical suspicion or family history of spinocerebellar ataxia.
Spinocerebellar Ataxia Type 1 Expansion Analysis
Test code: DSP1
TAT: 21 days
A molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 1.
Spinocerebellar Ataxia Type 2 Expansion Analysis
Test code: DSP2
TAT: 21 days
A molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 2.
Spinocerebellar Ataxia Type 3 Expansion Analysis
Test code: DSP3
TAT: 21 days
A molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 3.
Spinocerebellar Ataxia Type 6 Expansion Analysis
Test code: DSP6
TAT: 21 days
A molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 6.
Spinocerebellar Ataxia Type 7 Expansion Analysis
Test code: DSP7
TAT: 21 days
A molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 7.