Molecular Testing

3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing

MCCC1 sequencing is a molecular test used to identify variants in one of the genes associated with 3-Methylcrotonylglycinuria.

Aarskog Syndrome: FGD1 Sequencing

FGD1 sequencing is a molecular test used to identify variants in the gene associated with Aarskog syndrome.

Achondroplasia: FGFR3 Targeted Analysis

FGFR3 Targeted analysis is a molecular test used to identify common variants in the gene associated with Achondroplasia.

Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing

ABCD1 sequencing is a molecular test used to identify variants in the gene associated with X-linked Adrenoleukodystrophy.

Alpha-mannosidosis: MAN2B1 Sequencing

MAN2B1 sequencing is a molecular test used to identify variants in the gene associated with Alpha-Mannosidosis.

Aminoglycoside-Induced Hearing Loss: MT-RNR1 Targeted Analysis

MTRNR1 Targeted analysis is a molecular test used to identify the A1555G variant associated with Aminoglycoside-induced hearing loss.

Angelman Syndrome Methylation-Specific MLPA

Angelman syndrome Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities associated with Angelman syndrome.

Angelman Syndrome: UBE3A Sequencing

UBE3A sequencing is a molecular test used to identify variants in the gene associated with Angelman syndrome.

Aortic Dysfunction/Dilation & Related Disorders NGS Panel

This panel of 20 genes is intended for patients with a diagnosis or clinical suspicion of aortic dysfunction or dilation and related disorders and is performed by Next Generation Sequencing (NGS).

ARX-Related Spectrum of X-Linked Intellectual Disability (XLID): ARX Sequencing

ARX sequencing is a molecular test used to identify variants in the gene associated with ARX-Related X-Linked Intellectual Disability XLID.

Aspartylglucosaminuria: AGA Sequencing

AGA sequencing is a molecular test used to identify variants in the gene associated with Aspartylglucosaminuria.

Bardet-Biedl Syndrome NGS Panel

This panel of 26 genes intended for patients with a diagnosis or clinical suspicion of Bardet-Biedl Syndrome and is performed by next generation sequencing.

Beare-Stevenson with Cutis Gyrata: FGFR2 Targeted Analysis

FGFR2 Targeted analysis is a molecular test used to identify common variants in the gene associated with Beare-Stevenson w/ cutis gyrata.

Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing

CDKN1C sequencing is a molecular test used to identify variants in the gene associated with Beckwith-Wiedemann Syndrome.

Beckwith-Wiedemann Syndrome Methylation-Specific MLPA

BWS Methylation-Specific MLPA is a molecular test used to detect copy number variants or methylation abnormalities associated with Beckwith-Wiedemann syndrome.

Beta-mannosidosis: MANBA Sequencing

MANBA sequencing is a molecular test used to identify variants in the gene associated with Beta-mannosidosis.

Biotinidase Deficiency: BTD Sequencing

BTD sequencing is a molecular test used to identify variants in the gene associated with Biotinidase deficiency.

Brugada Syndrome NGS Panel

This panel of 18 genes is intended for patients with a diagnosis or clinical suspicion of Brugada Syndrome and is performed by Next Generation Sequencing (NGS).

Carnitine Palmitoyltransferase IA Deficiency: CPT1A Sequencing

CPT1A sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase IA Deficiency.

Carnitine Palmitoyltransferase II Deficiency: CPT2 Sequencing

CPT2 sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase II Deficiency.

Central Hypoventilation Syndrome NGS Panel

This panel of 3 genes is intended for patients with a diagnosis of central hypoventilation syndrome, and it is performed by Next Generation Sequencing (NGS).

Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat

Central Hypoventilation Syndrome: PHOX2B Sequencing

Charcot-Marie-Tooth Disease Type 1A: PMP22 Deletion/Duplication MLPA

PMP22 MLPA is a molecular test used to identify deletions or duplications in the gene associated with Charcot-Marie-Tooth Disease Type 1A.

Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel

This panel of 54 genes intended for patients with a diagnosis or clinical suspicion of Charcot-Marie-Tooth Hereditary Neuropathy and is performed by Next Generation Sequencing (NGS).

CHD7-Related Disorders: CHD7 Sequencing

CHD7 sequencing is a molecular test used to identify variants in the gene associated with CHD7-related disorders including CHARGE syndrome and Kallman syndrome 5.

Cholestasis NGS Panel

This panel of 73 genes is intended for patients with cholestasis and is performed by Next Generation Sequencing (NGS).

Chromosome 14 UPD Analysis

Comparative analysis between proband and parental samples for markers on chromosome 14.

Chromosome 15 UPD Analysis

Comparative analysis between proband and parental samples for markers on chromosome 15.

Chromosome 7 UPD Analysis

Comparative analysis between proband and parental samples for markers on chromosome 7.

Citrullinemia Type 1: ASS1 Sequencing

ASS1 sequencing is a molecular test used to identify variants in the gene associated with Citrullinemia, Type 1.

Coffin-Lowry Syndrome: RPS6KA3 Sequencing

RPS6KA3 sequencing is a molecular test used to identify variants in the gene associated with Coffin-Lowry syndrome.

Coffin-Siris Syndrome NGS Panel

This panel of 22 genes is intended for patients with a diagnosis or clinical suspicion of Coffin-Siris Syndrome and is performed by next generation sequencing.

Comprehensive Cardiac NGS Panel

This panel of 108 genes is intended for patients with a diagnosis or clinical suspicion of inherited cardiac disorders and is performed by next generation sequencing.

Comprehensive Pulmonary NGS Panel

This panel of 124 genes is intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorders and is performed by next generation sequencing.

Cone-Rod Dystrophy NGS Panel

This panel of 37 genes is intended for patients with a diagnosis or clinical suspicion of Cone-Rod Dystrophy and is performed by Next Generation Sequencing.

Congenital Contractures NGS Panel

This panel of 57 genes is intended for patients with a diagnosis of Congenital Contractures and is performed by next generation sequencing.

Congenital Stationary Night Blindness (CSNB) NGS Panel

This panel of 15 genes intended for patients with a diagnosis or clinical suspicion of Congenital Stationary Night Blindness and is performed by next generation sequencing.

Connective Tissue Disorders NGS Panel

This panel of 35 genes is intended for patients with a diagnosis or clinical suspicion of Connective Tissue Disorders and is performed by next generation sequencing.

Connexin 26: GJB2 Sequencing

This test includes sequencing of the coding region.

Connexin 26: GJB2 Targeted Mutation Analysis

GJB2 Targeted Mutation analysis is a molecular test used to identify known variants in the gene associated with Connexin 26-Related hearing loss.

Copper Transport Disorders: ATP7A Sequencing

ATP7A sequencing is a molecular test used to identify variants in the gene associated with Copper Transport Disorders.

Cornelia de Lange Syndrome NGS Panel

This panel of 5 genes is intended for patients with a diagnosis or clinical suspicion of Cornelia de Lange Syndrome and is performed by next generation sequencing.

Craniosynostosis NGS Panel

This panel of 8 genes is intended for patients with a diagnosis of Craniosynostosis and is performed by next generation sequencing.

Creatine Transporter Deficiency: SLC6A8 Sequencing

SLC6A8 sequencing is a molecular test used to identify variants in the gene associated with Creatine Transporter Deficiency.

Crouzon with Acanthosis Nigricans: FGFR3 Targeted Analysis

FGFR3 targeted analysis is a molecular test used to identify common variants in the gene associated with Crouzon syndrome with acanthosis nigricans.

Cystic Fibrosis: CFTR Sequencing

CFTR sequencing is a molecular test used to identify variants in the gene associated with Cystic Fibrosis.

Cystic Fibrosis: CFTR Targeted Mutation Analysis

CFTR targeted analysis is a molecular test used to identify known variants in the gene associated with Cystic Fibrosis.

Dilated & Arrhythmogenic Cardiomyopathy NGS Panel

This panel of 51 genes is intended for patients with a diagnosis or clinical suspicion of Dilated & Arrhythmogenic Cardiomyopathy and is performed by Next Generation Sequencing (NGS).

Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA

Molecular testing for Duchenne and Becker muscular dystrophy involves multiple ligation-dependent probe amplification (MLPA) analysis that can detect up to 98% of all deletions and duplications in the DMD gene in patients and females that carry the mutation.

Dyskeratosis Congenita NGS Panel

This panel of 14 genes is intended for patients with a diagnosis or clinical suspicion of dyskeratosis congenita and is performed by Next Generation Sequencing (NGS).

Early Infantile Epileptic Encephalopathy NGS Panel

This panel of 86 genes is intended for patients with a diagnosis or clinical suspicion of early infantile epileptic encephalopathy and is performed by Next Generation Sequencing (NGS).

Epilepsy/Seizure NGS Panel

This panel of 165 genes is intended for patients with a diagnosis of epilepsy or seizures and is performed by next generation sequencing.

EpiSign Complete

EpiSign Complete is the first clinical assay validated to detect unique epigenetic signatures and methylation abnormalities for over 70 recognized genetic conditions.

EpiSign Variant

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

GLA sequencing is a molecular test used to identify variants in the gene associated with Fabry Disease.

Factor V Leiden Thrombophilia: F5 Targeted Analysis

F5 targeted analysis is a molecular test used to identify the common R506Q/p.Arg534Gln variant in the gene associated with Factor V Leiden thrombophilia.

Familial Hypercholesterolemia NGS Panel

This panel of four genes is intended for patients with suspected or clinically diagnosed familial hypercholesterolemia, and it is performed by Next Generation Sequencing (NGS).

Familial Hypercholesterolemia: LDLR Deletion/Duplication MLPA

LDLR MLPA is a molecular test used to identify deletions or duplications in one of the genes associated with Familial Hypercholesterolemia.

FGFR2-Related Disorders: FGFR2 Sequencing

FGFR2 sequencing is a molecular test used to identify variants in the gene associated with FGFR2-Related craniosynostosis syndromes.

FGFR2-Related Disorders: FGFR2 Targeted Analysis

FGFR2 targeted analysis is a molecular test used to identify common variants in the gene associated with FGFR2-Related disorders including Apert syndrome, Crouzon syndrome, and Jackson-Weiss syndrome.

Focused NGS - Panel

A custom panel of up to 60 genes can be requested using the exome backbone.

Focused NGS - Single Gene

Any custom single gene analysis can be requested using an exome backbone.

Fragile X Syndrome: FMR1 Methylation Analysis

Additional characterizations of FMR1 expansions for methylation status following abnormal PCR detection of abnormal allele.

Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis

FMR1 trinucleotide repeat analysis is a molecular test used to identify expanded CGG repeat size in the gene associated with Fragile X syndrome.

Fucosidosis: FUCA1 Sequencing

FUCA1 sequencing is a molecular test used to identify variants in the gene associated with Fucosidosis.

Galactosemia: GALT Sequencing

GALT sequencing is a molecular test used to identify variants in the gene associated with Galactosemia.

Galactosialidosis: CTSA Sequencing

CTSA sequencing is a molecular test used to identify variants in the gene associated with Galactosialidosis.

Gaucher Disease: GBA Sequencing

GBA sequencing is a molecular test used to identify variants in the gene associated with Gaucher Disease.

Glutaric Acidemia Type I: GCDH Sequencing

GCDH sequencing is a molecular test used to identify variants in the gene associated with Glutaric Acidemia, Type I.

GNAS Methylation-Specific MLPA

GNAS Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities within the GNAS complex locus on chromosome 20q13.32.

Hearing Loss NGS Panel

This panel of 91 genes is intended for patients with a diagnosis of Hearing Loss and is performed by Next Generation Sequencing (NGS).

Hereditary Spastic Paraplegia NGS Panel

This panel of 79 genes is intended for patients with a diagnosis or clinical suspicion of Hereditary Spastic Paraplegia.

Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel

This panel of 40 genes is intended for patients with a diagnosis or clinical suspicion of Hermansky-Pudlak Syndrome & Pulmonary Fibrosis and is performed by Next Generation Sequencing (NGS).

Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA

IDS Deletion/Duplication (MLPA)is a molecular test used to diagnose Mucopolysaccharidosis II (MPS II), Hunter Syndrome.

Hunter Syndrome (MPS II): IDS Sequencing

IDS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis II (MPS II), Hunter Syndrome. This analysis also includes MLPA to identify copy number variants as well as analysis for the common inversion between IDS and IDS-2.

Hurler Syndrome (MPS I): IDUA Sequencing

IDUA sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis I (MPS I), Hurler Syndrome.

Hypertrophic Cardiomyopathy NGS Panel

This panel of 24 genes is intended for patients with a diagnosis or clinical suspicion of Hypertrophic Cardiomyopathy and is performed by Next Generation Sequencing (NGS).

Hypochondroplasia: FGFR3 Targeted Analysis

FGFR3 Targeted analysis is a molecular test used to identify variants in the gene associated with Hypochondroplasia.

Kabuki Syndrome 2: KDM6A Sequencing

KDM6A sequencing is a molecular test used to identify variants in the gene associated with Kabuki Syndrome 2.

Kabuki Syndrome: KMT2D Sequencing

KMT2D sequencing is a molecular test used to identify variants in the gene associated with Kabuki syndrome.

Kallmann Syndrome & Hypogonadotropic Hypogonadism NGS Panel

This panel of 39 genes is intended for patients with a diagnosis of Kallmann syndrome or hypogonadotropic hypogonadism and is performed by Next Generation Sequencing (NGS).

Krabbe Disease: GALC Sequencing

GALC sequencing is a molecular test used to identify variants in the gene associated with Krabbe Disease.

Leber Congenital Amaurosis NGS Panel

This sequencing panel of 24 genes intended for patients with a diagnosis or clinical suspicion of Leber Congenital Amaurosis and is performed by Next Generation Sequencing (NGS).

Long QT Syndrome NGS Panel

This panel of 18 genes intended for patients with a diagnosis or clinical suspicion of Long QT Syndrome and is performed by Next Generation Sequencing (NGS).

Lysosomal Storage Disease NGS Panel

This panel of 75 genes intended for patients with a diagnosis or clinical suspicion of Lysosomal Storage Disease and is performed by Next Generation Sequencing (NGS).

Macular Degeneration NGS Panel

This panel of 24 genes intended for patients with a diagnosis or clinical suspicion of Macular Degeneration and is performed by Next Generation Sequencing (NGS).

Marfan Syndrome: FBN1 Sequencing

FBN1 sequencing is a molecular test used to identify variants in the gene associated with Marfan syndrome.

Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing

ARSB sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis VI (MPSVI), Maroteaux-Lamy syndrome.

Maternal Cell Contamination (MCC)

Maturity-Onset Diabetes of the Young (MODY) NGS Panel

This panel of 14 genes is intended for patients with suspected or clinically diagnosed maturity-onset diabetes of the young and some forms of familial hyperinsulinism, and it is performed by Next Generation Sequencing (NGS).

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing

ACADM sequencing is a molecular test used to identify variants in the gene associated with Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Metachromatic Leukodystrophy (MLD): ARSA Sequencing

ARSA sequencing is a molecular test used to identify variants in the gene associated with Metachromatic Leukodystrophy.

Mitochondrial Depletion NGS Panel

This panel of 23 genes intended for patients with a diagnosis or clinical suspicion of Mitochondrial Depletion and is performed by next generation sequencing.

Mitochondrial DNA Variant Panel

This targeted panel include 96 mitochondrial DNA variants with known phenotypes. Below is a list of variants which are considered in the analysis. The variant “m.7445A>G” is located at the boundary of two genes, MT-CO1 and MT-TS1, and is commonly considered as two variants.

Morquio Syndrome A (MPS IVA): GALNS Sequencing

GALNS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IVA (MPSIVA), Morquio syndrome A .

Morquio Syndrome B (MPS IVB), GM1 Gangliosidosis: GLB1 Sequencing

GLB1 sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IVB (MPS IVB), GM1 Gangliosidosis, Morquio syndrome B.

mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation

Targeted Next Generation Sequencing (NGS) analysis for a specific variant previously identified in a family member. Use of NGS allows for the reporting of heteroplasmy level.

Note: This test may not detect variants with a heteroplasmy of less than 10%.

mtDNA Targeted Analysis: Known Familial Mutation

Targeted Sanger sequencing analysis for a specific variant previously identified in a family member.
Note: Levels of mutant heteroplasmy 20% or lower may not be detected by Sanger. Additionally, levels of mutant heteroplasmy above 80% will appear homoplasmic by Sanger sequencing.

Mucolipidosis II & III Alpha/Beta: GNPTAB Sequencing

GNPTAB sequencing is a molecular test used to identify variants in the gene associated with Mucolipidosis II & III Alpha/Beta.

Mucolipidosis III Gamma: GNPTG Sequencing

GNPTG sequencing is a molecular test used to identify variants in the gene associated with Mucolipidosis III Gamma.

Myotonic Dystrophy: DMPK Trinucleotide Repeat Analysis

DMPK trinucleotide repeat analysis is a molecular test used to identify expanded CTG repeats in the gene associated with Myotonic dystrophy.

Myotubular Myopathy, X-Linked: MTM1 Sequencing

MTM1 sequencing is a molecular test used to identify variants in the gene associated with X-linked Myotubular Myopathy.

Neuromuscular Disorders NGS Panel

This panel of 144 genes intended for patients with symptoms of Neuromuscular Disorders and is performed by Next Generation Sequencing (NGS).

Neuronal Ceroid Lipofuscinoses NGS Panel

This panel of 9 genes intended for patients with a diagnosis or clinical suspicion of Neuronal Ceroid Lipofuscinoses and is performed by Next Generation Sequencing (NGS).

Neuronal Ceroid Lipofuscinosis 1 (CLN1): PPT1 Sequencing

PPT1 sequencing is a molecular test used to identify variants in the gene associated with Neuronal Ceroid Lipofuscinosis Type 1 (CLN1).

Neuronal Ceroid Lipofuscinosis 2 (CLN2): TPP1 Sequencing

TPP1 sequencing is a molecular test used to identify variants in the gene associated with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2).

Niemann-Pick Disease A/B: SMPD1 Sequencing

SMPD1 sequencing is a molecular test used to identify variants in the gene associated with Niemann-Pick A/B disease.

Non-Immune Hydrops NGS Panel

This panel of 87 genes is intended for patients with a diagnosis or clinical suspicion of non-immune hydrops and is performed by Next Generation Sequencing (NGS).

Non-Syndromic Craniosynostosis (also Muenke): FGFR3 Targeted Analysis

FGFR3 Targeted analysis is a molecular test used to identify variants in the gene associated with Non-syndromic craniosynostosis (also Muenke).

Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel

This panel of 18 genes is intended for patients with a diagnosis or clinical suspicion of Ocular Albinism & Hermansky-Pudlak Syndrome and is performed by Next Generation Sequencing (NGS).

Optic Atrophy & Early Glaucoma NGS Panel

This panel of 34 genes intended for patients with a diagnosis or clinical suspicion of Optic Atrophy and Early Glaucoma and is performed by Next Generation Sequencing (NGS).

Ornithine Transcarbamylase Deficiency: OTC Sequencing

OTC sequencing is a molecular test used to identify variants in the gene associated with Ornithine transcarbamylase deficiency.

Overgrowth/Macrocephaly NGS Panel

This panel of 16 genes intended for patients with a diagnosis of Overgrowth/Macrocephaly and is performed by Next Generation Sequencing (NGS).

Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Deletion/Duplication MLPA

PLP1 Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with Pelizaeus-Merzbacher Disease, Spastic Paraplegia.

Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Sequencing

PLP1 sequencing is a molecular test used to identify variants in the gene associated with Pelizaeus-Merzbacher Disease, Spastic Paraplegia.

Periodic Fever NGS Panel

This panel of 14 genes is intended for patients with periodic fever and is performed by Next Generation Sequencing (NGS).

Peroxisomal Biogenesis Disorders NGS Panel

This panel of 11 genes intended for patients with a diagnosis or clinical suspicion of Peroxisomal Biogenesis Disorders and is performed by Next Generation Sequencing (NGS).

Phenylketonuria: PAH Sequencing

PAH sequencing is a molecular test used to identify variants in the gene associated with Phenylketonuria.

Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA

GAA MLPA is a molecular test used to identify copy number variants in the gene associated with Glycogen Storage Disease Type II, Pompe disease.

Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing

GAA sequencing is a molecular test used to identify variants in the gene associated with Glycogen Storage Disease Type II, Pompe disease.

Prader-Willi Syndrome Methylation-Specific MLPA

Prader-Willi syndrome Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities associated with Prader-Willi syndrome.

Prenatal Exome Sequencing

Prenatal exome sequencing (PES) is a phenotype-driven analysis available for patients with abnormal findings on ultrasound.

Primary Carnitine Deficiency, Systemic: SLC22A5 Sequencing

SLC22A5 sequencing is a molecular test used to identify variants in the gene associated with Primary Carnitine Deficiency, systemic.

Primary Ciliary Dyskinesia & Cystic Fibrosis NGS Panel

This panel of 42 genes intended for patients with a diagnosis or clinical suspicion of Primary Ciliary Dyskinesia and Cystic Fibrosis and is performed by next generation sequencing.

Prothrombin 20210A: F2 Targeted Analysis

F2 targeted analysis is a molecular test used to identify the common 20210G>A variant in the gene associated with Prothrombin.

PTEN-Related Disorders: PTEN Deletion/Duplication MLPA

PTEN Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with PTEN-related disorders including Cowden syndrome and Bannayan-Riley Ruvalcaba syndrome.

PTEN-Related Disorders: PTEN Sequencing

PTEN sequencing is a molecular test used to identify variants in the gene associated with PTEN-related disorders including Cowden syndrome and Bannayan-Riley Ruvalcaba syndrome.

PTEN-Related Disorders: PTEN Targeted Analysis

PTEN targeted analysis is a molecular test used to identify known variants in the gene associated with PTEN-related disorders.

PTPN11-Related Disorders: PTPN11 Sequencing

PTPN11 sequencing is a molecular test used to identify variants in the gene associated with PTPN11- related disorders including Noonan syndrome and LEOPARD syndrome.

Pulmonary Arterial Hypertension NGS Panel

This panel of 22 genes is intended for patients with a diagnosis or clinical suspicion of Pulmonary Arterial Hypertension and is performed by next generation sequencing.

QUICK Analysis

The QUICK Analysis is Greenwood’s free NGS-reflex analysis that rapidly screens full exome data for pathogenic alterations when panel results are negative.

RASopathy NGS Panel

This panel of 23 genes intended for patients with a diagnosis or clinical suspicion of a RASopathy syndrome including Noonan, Cardio-facio-cutaneous, Costello, and Leopard syndromes and is performed by Next Generation Sequencing (NGS).

Retinitis Pigmentosa NGS Panel

This panel of 92 genes intended for patients with a diagnosis or clinical suspicion of Retinitis Pigmentosa.

Rett Syndrome: MECP2 Deletion/Duplication MLPA

MECP2 Deletion/Duplication (MLPA) is a molecular test used to detect copy number variants in the gene associated with Rett syndrome.

Rett Syndrome: MECP2 Sequencing

MECP2 sequencing is a molecular test used to identify variants in the gene associated with Rett syndrome.

Rett Syndrome: MECP2 Targeted Mutation Analysis

MECP2 targeted mutation analysis is a molecular test used to identify known variants in the gene associated with Rett syndrome.

Rett/Angelman Syndrome NGS Panel

This panel of 21 genes intended for patients with a diagnosis or clinical suspicion of Rett/Angelman syndrome.

Rhabdomyolysis & Metabolic Myopathies NGS Panel

This panel of 47 genes intended for patients with a diagnosis or clinical suspicion of Rhabdomyolysis and Metabolic Myopathies.

Russell-Silver Syndrome Methylation-Specific MLPA

RSS Methylation-Specific MLPA is a molecular test used to detect copy number variants or methylation abnormalities associated with Russell-Silver syndrome (RSS).

Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA

TWIST1 Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with Saethre-Chotzen syndrome.

Saethre-Chotzen Syndrome: TWIST1 Sequencing

TWIST1 sequencing is a molecular test used to identify variants in the gene associated with Saethre-Chotzen syndrome.

Sandhoff Disease: HEXB Sequencing

HEXB sequencing is a molecular test used to identify variants in the gene associated with Sandhoff Disease.

Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing

SGSH sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIA (MPS IIIA), Sanfilippo syndrome A.

Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing

NAGLU sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIB (MPS IIIB), Sanfilippo syndrome B.

Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing

HGSNAT sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIIC (MPS IIIC), Sanfilippo syndrome C.

Sanfilippo Syndrome D (MPS IIID): GNS Sequencing

GNS sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis IIID (MPS IIID), Sanfilippo syndrome D.

Short-Chain Acyl-CoA Dehydrogenase Deficiency: ACADS Sequencing

ACADS sequencing is a molecular test used to identify variants in the gene associated with Short-Chain Acyl-CoA Dehydrogenase Deficiency.

Sialidosis: NEU1 Sequencing

NEU1 sequencing is a molecular test used to identify variants in the gene associated with Sialidosis .

Skeletal Dysplasia NGS Panel

This panel of 11 genes is intended for patients with a diagnosis or clinical suspicion of skeletal dysplasia and is performed by Next Generation Sequencing (NGS).

Sly Syndrome (MPS VII): GUSB Sequencing

GUSB sequencing is a molecular test used to identify variants in the gene associated with Mucopolysaccharidosis VII (MPS VII), Sly Syndrome.

Sotos Syndrome: NSD1 Deletion/Duplication MLPA

NSD1 Deletion/Duplication (MLPA) is a molecular test used to detect copy number variants in the gene associated with Sotos syndrome.

Sotos Syndrome: NSD1 Sequencing

NSD1 sequencing is a molecular test used to identify variants in the gene associated with Sotos syndrome.

Spinal Muscular Atrophy: SMN1 Sequencing

SMN1 sequencing is a molecular test used to identify sequence alterations in the gene associated with Spinal Muscular Atrophy, SMA.

Spinal Muscular Atrophy: SMN1/SMN2 Deletion/Duplication MLPA

SMN1/SMN2 Deletion/Duplication (MLPA) is a molecular test used to identify copy number variants in the gene associated with Spinal Muscular Atrophy, SMA.

Spinocerebellar Ataxia Expansion Panel

This panel of 5 genes is intended for patients with a diagnosis or clinical suspicion of spinocerebellar ataxia, and it is performed by trinucleotide repeat expansion analysis.

Spinocerebellar Ataxia Type 1 Expansion Analysis

ATXN1 trinucleotide repeat analysis is 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

ATXN2 trinucleotide repeat analysis is 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

ATXN3 trinucleotide repeat analysis is 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

CACNA1A trinucleotide repeat analysis is 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

ATXN7 trinucleotide repeat analysis is 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

STRC Deletion/Duplication MLPA is a molecular test used to detect copy number variants in the gene associated with STRC-related disorders including type 16 autosomal recessive deafness.

STRC-Related Disorders: STRC Sequencing

STRC sequencing is a molecular test used to identify variants in the gene associated with STRC-related disorders including type 16 autosomal recessive deafness.

Surfactant Dysfunction & Respiratory Distress in Premature Infants NGS Panel

This panel of 11 genes is intended for patients with a diagnosis or clinical suspicion of Surfactant Dysfunction and Respiratory Distress in Premature Infants.

Syndromic Autism NGS Panel

This panel of 83 genes is intended for patients with a diagnosis of Autism and is performed by next generation sequencing.

Targeted Analysis: Known Familial Mutation

Targeted known mutation analysis can be requested on a family member for any sequence variant identified by Sanger sequencing or Next Generation Sequencing (NGS).

Tay-Sachs Disease: HEXA Sequencing

HEXA sequencing is a molecular test used to identify variants in the gene associated with Tay-Sachs Disease.

Thanatophoric Dysplasia Type I: FGFR3 Targeted Analysis

FGFR3 targeted analysis is a molecular test used to identify variants in the gene associated with Thanatophoric dyplasia type I.

Thanatophoric Dysplasia Type II: FGFR3 Targeted Analysis

FGFR3 targeted analysis is a molecular test used to identify variants in the gene associated with Thanatophoric dyplasia type II .

TP63-Related Disorders: TP63 Sequencing

TP63 sequencing is a molecular test used to identify variants in the gene associated with TP63-related disorders including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome, Hay-Wells syndrome, and split-hand/split foot malformation.

Tuberous Sclerosis Complex (TSC) NGS Panel

This panel of two genes is intended for patients with suspected or clinically diagnosed tuberous sclerosis complex (TSC), and it is performed by Next Generation Sequencing (NGS).

Vascular Malformation NGS Panel

This panel of 21 genes is intended for patients with a diagnosis or clinical suspicion of Vascular Disorders.

Very Long Chain Fatty Acid Deficiency: ACADVL Sequencing

ACADVL sequencing is a molecular test used to identify variants in the gene associated with Very Long Chain Fatty Acid Deficiency.

Whole Exome Sequencing

X-Inactivation Studies

X-Linked Hydrocephalus: L1CAM Sequencing

L1CAM sequencing is a molecular test used to identify variants in the gene associated with X-Linked Hydrocephalus.

X-Linked Intellectual Disability (XLID) NGS Panel

This panel of 114 genes is intended for patients with a diagnosis or clinical suspicion of X-Linked Intellectual Disability (XLID).