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.
Molecular
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).
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: 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.
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.
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.
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.
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.
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.
Comprehensive Cardiac NGS Panel
Test code: DCAR
TAT: 8 weeks
A panel of 125 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.
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.
Dilated & Arrhythmogenic Cardiomyopathy NGS Panel
Test code: DDCA
TAT: 8 weeks
A panel of 65 genes intended for patients with a diagnosis or clinical suspicion of an inherited cardiac disorder.
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: 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.
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: 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): 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.
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).
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).
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.
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.
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).
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: 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 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) .
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.
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.
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.
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 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.
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.
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 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): 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): 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).
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 .
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): 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).
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.
STRC-Related Disorders: STRC Deletion/Duplication MLPA
Test code: DSTD
TAT: 14 days
STRC deletion/duplication MLPA is a molecular test used to detect copy number variants in the gene associated with STRC-related autosomal recessive hearing loss.
STRC-Related Disorders: STRC Sequencing
Test code: DSTR
TAT: 21 days
Prenatal Samples Accepted
STRC sequencing is a molecular test used to identify variants in the gene associated with STRC-related autosomal recessive hearing loss.
Targeted Analysis: Known Familial Variant
Test code: DTKF
TAT: 14 days
Prenatal Samples Accepted
Targeted Analysis: Known Mutation is used to detect a previously identified sequence variant.
Tay-Sachs Disease: HEXA Sequencing
Test code: DHXA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Tay-Sachs disease.
Vascular Malformation NGS Panel
Test code: DVMP
TAT: 8 weeks
A panel of 21 genes intended for patients with a diagnosis or clinical suspicion of a vascular disorders.
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency: ACADVL Sequencing
Test code: DVLC
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.
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.