Alpha-mannosidosis Serum Oligosaccharide Analysis
Test code: BSAM
TAT: 21 days
This biochemical test measures oligosaccharides in patients with alpha-mannosidosis.
Genetics & Dysmorphology
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.
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.
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.
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.
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.
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 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.
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.
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.
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.
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.
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.
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.
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).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Whole Exome Sequencing-XL, Duo Analysis
Test code: DXLD
TAT: 10 weeks
A phenotype-driven exome analysis of genomic data from the proband and one parent, used to help determine the underlying genetic cause of the patient’s unexplained medical condition
Whole Exome Sequencing-XL, Reanalysis
Test code: DXLR
TAT: 10 weeks
An exome reanalysis of genomic data previously generated at GGC can be requested when the proband presents with new or updated clinical findings.
Whole Exome Sequencing-XL, Singleton Analysis
Test code: DXLS
TAT: 10 weeks
A phenotype-driven exome analysis of genomic data from the proband to help determine the underlying genetic cause of the patient’s unexplained medical condition.
Whole Exome Sequencing-XL, Trio Analysis
Test code: DXLT
TAT: 10 weeks
A phenotype-driven exome analysis of genomic data from the proband and both parents to help determine the underlying genetic cause of the patient’s unexplained medical condition.
Whole Exome Sequencing, Duo Analysis
Test code: DWE2
TAT: 10 weeks
Whole Exome Sequencing, Duo Analysis is a phenotype-driven analysis of exome data from the proband and one parent.
Whole Exome Sequencing, Reanalysis
Test code: DWER
TAT: 10 weeks
A reanalysis of exome data previously generated at GGC can be requested when the proband presents with new or updated clinical findings.
Whole Exome Sequencing, Singleton Analysis
Test code: DWE1
TAT: 10 weeks
Whole Exome Sequencing, Singleton Analysis is a phenotype-driven analysis of exome data from the proband.
Whole Exome Sequencing, Trio Analysis
Test code: DWE3
TAT: 10 weeks
Whole Exome Sequencing, Trio Analysis is a phenotype-driven analysis of exome data from the proband and both parents.
Whole Genome Sequencing, Duo Analysis
Test code: DWG2
TAT: 10 weeks
A comprehensive, phenotype-driven analysis of the genomic data from the proband and one parent to help determine the underlying genetic cause of an unexplained medical condition.
Whole Genome Sequencing, Singleton Analysis
Test code: DWG1
TAT: 10 weeks
A comprehensive, phenotype-driven analysis of the genomic data from the proband to help determine the underlying genetic cause of an unexplained medical condition.
Whole Genome Sequencing, Trio Analysis
Test code: DWG3
TAT: 10 weeks
A comprehensive, phenotype-driven analysis of the genomic data from the proband and both parents to help determine the underlying genetic cause of an unexplained medical condition.
X-Inactivation Studies
Test code: DXIN
TAT: 14 days
A molecular test used to determine if females are skewed toward or away from a potentially abnormal allele.