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Carrier Screening
Some genetic disorders are relatively common and carrier screening is recommended regardless of ethnic background and these genetic diseases will include.
Cystic Fibrosis
Fragile X Syndrome
Spinal Muscular Atrophy
Carrier screening test follows the American College of Obstetricians and Gynecologists (ACOG) recommendations and screen patients for 7 genetic diseases
Beta-Thalassemia
Alpha-Thalassemia
Sickle Cell Disease
Canavan Disease
Cystic Fibrosis
Familial Dysautonomia
Tay-Sachs Disease
Carrier screening test follows the American College of Medical Genetics and Genomics (ACMG)recommendations and screen patients for 10 genetic diseases
Cystic Fibrosis
Spinal Muscular Atrophy
Bloom’s Syndrome
Canavan Disease
Familial Dysautonomia
Fanconi Anemia Group C
Gaucher Disease
Mucolipidosis Type IV
Niemann-Pick Disease Type A/B
Tay-Sachs Disease
Next generation sequencing panel that analyzes carrier screening panel of your choice associated with different type of genetic diseases.
Complete Next Generation Sequencing carrier screening panel that can detect for 350+ genetic disorders. Example of the common genetic disease:
Cystic Fibrosis
Spinal Muscular Dystrophy
Fragile X Syndrome
Alpha Thalassemia
Beta Thalassemia
Sickle Cell Disease
Bloom’s Syndrome
Canavan Disease
Familial Dysautonomia
Fanconi Anemia Group C
Gaucher Disease
Mucolipidosis Type IV
Niemann-Pick Disease Type A/B
Tay-Sachs Disease
Dihydrolipamide Dehydrogenase Deficiency & Maple Syrup Urine Disease Type A/B
Familial Hyperinsulinism
Glycogen Storage Disease Type Ia
Joubert Syndrome 2
Nemaline Myopathy
Usher Syndrome Type IF
Usher Syndrome Type III
Walker-Warburg Syndrome
3-Hydroxyl-CoA Dehydrogenase Deficiency
Glycogen Storage Disease Type II
Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 2
Patients can be screened for specific genetic disease based on their ethnic background
- Mediterranean
Hemoglobinopathies are a diverse group of blood disorders seen in Mediterranean populations and these blood disorders will include
Beta-Thalassemia
Alpha-Thalassemia
Sickle Cell Disease
- Ashkenazi Jewish
Some genetic disorders are more prevalent in the Jewish population originating from Eastern and Central Europe. This group is known as Ashkenazi and it represents the vast majority of Jewish individuals in North America. Ashkenazi Jewish diseases will include
Cystic Fibrosis
Bloom’s Syndrome
Canavan Disease
Familial Dysautonomia
Familial Hyperinsulinism
Fanconi Anemia Group C
Gaucher Disease
Glycogen Storage Disease Type Ia
Joubert Syndrome 2
Maple Syrup Urine Disease Type 1A/1B
Mucolipidosis Type IV
Nemaline Myopathy
Niemann-Pick Disease Type A/B
Tay-Sachs Disease
Usher Syndrome Type IF
Usher Syndrome Type III
Walker-Warburg Syndrome
- African American
People of African American descent typically have common genetic disorders and carrier screening is recommended. Diseases that are more common among African American are referred to as African Genetic Diseases and these genetic diseases will include:
Beta-Thalassemia
Alpha-Thalassemia
Sickle Cell Disease
Carnitine Palmitoyltransferase II Deficiency
Cystic Fibrosis
Fanconi Anemia Group C
Fragile X Syndrome
Galactosemia
Glutaric Acidemia Type 1
Glycogen Storage Disease Type 2
Hereditary Fructose Intolerance
Methylmalonic Aciduria Type 0
Pendred Syndrome
Phenylketonuria
Smith Lemli Opitz Syndrome
Spinal Muscular Atrophy
Tay-Sachs Disease
Tyrosinemia Type I
- Asian
People of Asian descent typically have common genetic disorders and carrier screening is recommended. Diseases that are more common among Asian are referred to as Asian Genetic Diseases and these genetic diseases will include:
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
Alpha-Thalassemia
Beta-Hemoglobinopathies: Beta Thalassemia and Sickle Cell Disease
Beta-Ketothiolase Deficiency
Carbamoyl Phosphate Synthetase I Deficiency
Carnitine Deficiency
Carnitine Palmitoyltransferase II Deficiency
Citrin Deficiency
Citrullinemia, Type I
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
Cystic Fibrosis
Cystinosis
Factor XI Deficiency
Fragile X Syndrome
Galactokinase Deficiency (Galactosemia, Type II)
Glutaric Acidemia, Type IIC
Glycogen Storage Disease, Type 1A
Glycogen Storage Disease, Type 2 (Pompe Disease)
Holocarboxylase Synthetase Deficiency
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Limb-Girdle Muscular Dystrophy, Type 2A
Lipoid Adrenal Hyperplasia
Lipoprotein Lipase Deficiency
Maple Syrup Urine Disease, Type 1B
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Methylmalonic Aciduria and Homocystinuria, Type cblC
Methylmalonic Aciduria, Type mut(0)
Mucolipidosis II/IIIA
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
Niemann Pick Disease, Type C1/D
Non-syndromic Hearing Loss
Pendred Syndrome
Phenylketonuria
Propionic Acidemia, alpha subunit
Propionic Acidemia, beta subunit
Segawa Syndrome, Autosomal Recessive
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy
Tay-Sachs Disease
Tyrosinemia, Type I
Usher Syndrome, Type 1B
Very-Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
Zellweger Spectrum Disorders, PEX10-Related
- Latin America
People of Latin American descent typically have common genetic disorders and carrier screening is recommended. Diseases that are more common among Latin American are referred to as Hispanic Genetic Diseases and these genetic diseases will include:
Beta Thalassemia
Sickle Cell Disease
Biotinidase Deficiency
Cystic Fibrosis
Cystinosis
Fragile X Syndrome
Galactosemia
Hereditary Fructose Intolerance
Limb-Girdle Muscular Dystrophy, Type 2A
Methylmalonic Aciduria, Type mut(0)
Spinal Muscular Atrophy
- Caucasian
People of Caucasian descent typically have common genetic disorders and carrier screening is recommended. Diseases that are more common among Caucasian are referred to as Caucasian Genetic Diseases and these genetic diseases will include:
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
Abetalipoproteinemia
Achromatopsia
Alpha-Mannosidosis
Alpha-Thalassemia
Alport Syndrome, COL4A3-Related
Aspartylglycosaminuria
Ataxia With Vitamin E Deficiency
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Batten Disease (Neuronal Ceroid Lipofuscinosis, CLN3-Related)
Beta-Hemoglobinopathies: Beta Thalassemia and Sickle Cell Disease
Beta-Ketothiolase Deficiency
Biotinidase Deficiency
Carbamoyl Phosphate Synthetase I Deficiency
Carnitine Deficiency
Carnitine Palmitoyltransferase II Deficiency
Carpenter Syndrome
Citrin Deficiency
Citrullinemia, Type I
Congenital Amegakaryocytic Thrombocytopenia
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related
Congenital Myasthenic Syndrome, CHRNE-associated
Congenital Myasthenic Syndrome, RAPSN-Related
Cystic Fibrosis
Cystinosis
Factor XI Deficiency
Familial Hypercholesterolemia, LDLR-Related
Fragile X Syndrome
Galactosemia
Gaucher Disease
Glutaryl-CoA Dehydrogenase Deficiency (Glutaric Acidemia, Type 1)
Glycine Encephalopathy, AMT-Related
Glycine Encephalopathy, GLDC-Related
Glycogen Storage Disease, Type 1A
Glycogen Storage Disease, Type 1B
Glycogen Storage Disease, Type 2 (Pompe Disease)
Glycogen Storage Disease, Type 4
Glycogen Storage Disease, Type 5 (McArdle Disease)
GRACILE Syndrome (Mitochondrial Respiratory Chain Complex III Deficiency)
Hemochromatosis, Type 2A
Hereditary Fructose Intolerance
Holocarboxylase Synthetase Deficiency
Homocystinuria
Homocystinuria, Type cblE
Inclusion Body Myopathy 2
Isovaleric Acidemia
Lamellar Ichthyosis, Type 1
Limb-Girdle Muscular Dystrophy, Type 2A
Limb-Girdle Muscular Dystrophy, Type 2D
Limb-Girdle Muscular Dystrophy, Type 2E
Lipoprotein Lipase Deficiency
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Maple Syrup Urine Disease, Type 1A
Maple Syrup Urine Disease, Type 1B
Meckel-Gruber Syndrome, Type 1
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Methylmalonic Aciduria and Homocystinuria, Type cblC
Methylmalonic Aciduria and Homocystinuria, Type cblD
Methylmalonic Aciduria, MMAA-Related
Methylmalonic Aciduria, MMAB-Related
Methylmalonic Aciduria, Type mut(0)
Mucolipidosis II/IIIA
Mucolipidosis III gamma
Mucopolysaccharidisis, Type IIIA (Sanfilippo A)
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
Mucopolysaccharidosis, Type IVB (GM1 Gangliosidosis)
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
Myoneurogastrointestinal Encephalopathy (MNGIE)
Niemann Pick Disease, Type C1/D
Niemann-Pick Disease, Types A/B
Nijmegen Breakage Syndrome
Non-syndromic Hearing Loss
Pendred Syndrome
Phenylketonuria
Polycystic Kidney Disease, Autosomal Recessive
Propionic Acidemia, alpha subunit
Propionic Acidemia, beta subunit
Retinitis Pigmentosa 25
Rhizomelic Chondrodysplasia Punctata, Type I
Sandhoff Disease
Segawa Syndrome, Autosomal Recessive
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy
Tay-Sachs Disease
Tyrosinemia, Type I
Usher Syndrome, Type 1B
Usher Syndrome, Type 2A
Very-Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
Wolman Disease
Zellweger Spectrum Disorders, PEX1-Related (Infantile Refsum Disease)
Zellweger Spectrum Disorders, PEX2-Related
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PGD Compatibility Testing
- PGD-Carrier Screening Compatibility Testing
GeneSeqDx offer PGD for any identified mutation in any inhrtied genetic disease. PGD determines which embryos are out of risk and safe for embryo transfer.
- PGD-Herditeary Cancer Compatibility Testing
GeneSeqDx offer PGD for any identified mutation in any herditeary cancer. PGD determines which embryos are out of risk and safe for embryo transfer.
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Prenatal Testing
- NIPT
Non-invasive prenatal testing (NIPT) involves whole genome analysis of a fetus DNA after 10 weeks pregnancy to screen for chromosomal aneuploidy. Most common conditions NIPT is used to detect are: Down Sydrome (Trisomy 21), Edward Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Sex chromosome abnormalities and micro deletions.
- Prenatal Diagnosis
Prenatal diagnosis tests are typically offered to women who are at a higher risk of having a baby with a birth defect, or as a follow-up for anyone who had abnormal results with screening tests. The two most common procedures are chorionic villus sampling (CVS) and amniocentesis.
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Oncology Testing
1. Hereditary Cancer Screening
Comprehensive Next Generation Sequencing panel of BRCA 1 and BRCA 2 for variants, deletions and duplications. Germline BRCA1 and BRCA2 mutations are associated in 25-50% of hereditary breast cancer cases.
BRCA 1, BRCA 2
Complete Next Generation Sequencing panel of genes associated with increased risk of Breast Cancer including BRC1 and BRCA2 .
BRCA1, BRCA2, CDH1, CHEK2, MET, PALB2, PTEN, STK11, TP53
Next Generation Sequencing panel that analyzed genes associated with increased risk for breast, ovarian, and/or uterine cancers.
BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, STK11, TP53
Full Next Generation Sequencing panel of genes associated with increased risk uterine cancers
EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, STK11, TP53
Comprehensive Next Generation Sequencing panel of genes associated with ovarian, endometrial, and other gynecological cancers
BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, STK11, TP53
Next generation sequencing panel that analyzes genes associated with increased risk colorectal cancer.
APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, STK11, TP53
Comprehensive Next Generation Sequencing panel of genes associated with increased risk pancreatic cancers
APC, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, STK11, TP53
Comprehensive Next Generation Sequencing panel of genes associated with gastric, colorectal, and other gastrointestinal cancers
APC, BMPR1A, CDH1, EPCAM, MET, MLH1, MSH2, MSH6, SMAD4, STK11, TP53
Next Generation Sequencing panel of genes associated with increased risk prostate cancer.
BRCA1, BRCA2, TP53
Complete Next Generation Sequencing panel of genes associated with thyroid cancer.
APC, MEN1, PTEN, RET, TP53
Next Generation Sequencing panel of genes associated with neuroendocrine tumors
RET, SDHA, SDHB, SDHC, VHL
Next Generation Sequencing analysis of gene associated with Lynch Syndrome
EPCAM, MLH1, MSH2, MSH6, PMS2
Next Generation Sequencing analysis of gene associated with Melaloma.
BRCA2, CDKN2A, TP53
Complete Next Generation Sequencing panel of genes associated with cancer risks.
APC, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, EPCAM, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS1, PMS2, PTEN, RET, SDHA, SDHB, SDHC, SMAD4, STK11, TP53, VHL
Next generation sequencing panel that analyzes genes of your choice associated with breast, colon, ovarian, pancreatic, kidney, uterine, and many other cancers.
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Somatic Cancer Diagnosis
Next Generation Sequencing panel that analyzed genes associated with breast cancer diagnosis.
ATM, CDH1, CSF1R, ERBB2, ERBB4, PTEN, TP53, FBXW7, FGFR1, FGFR2, MLH1, PIK3CA, STK11
Next Generation Sequencing panel that analyzed genes associated with ovarian cancer diagnosis.
ALK, BRAF, CTNNB1, ERBB2, FBXW7, FGFR1, KRAS, MLH1, PIK3CA, STK11
Next Generation Sequencing panel that analyzed genes associated with uterine cancer diagnosis
FGFR2, MLH1, PTEN, SRC
Next generation sequencing panel that analyzed genes associated with colorectal cancer diagnosis.
ALK, APC, BRAF, CDH1, CTNNB1, ERBB4, FLT3, IDH1, KRAS, MLH1, MPL, PIK3CA, PTEN, SNAD4, STK11
Next Generation Sequencing panel that analyzed genes associated with pancreatic cancer diagnosis.
ATM, CDKN2A, KRAS
Next Generation Sequencing panel that analyzed genes associated with gastric cancer diagnosis.
CDH1, ERBB2, ERBB4, HNF1A, JAK3, KIT, MLH1, PDGFRA, SMAD4, SMARCB1, STK11, TP53, VHL
Next Generation Sequencing panel that analyzed genes associated with thyroid cancer diagnosis.
BRAF, GNAS, HRAS, RET
Complete Next Generation Sequencing panel that analyzed genes associated with skin cancer diagnosis.
BRAF, CDKN2A, CTNNB1, EGFR, GNA11, GNAQ, HNF1A, JAK3, KDR, MPL, NRAS, PTEN, RB1, SMO, SRC, TP53
Next Generation Sequencing panel that analyzed genes associated with brain cancer diagnosis.
ALK, APC, CTNNB1, HRAS, IDH1, MLH1, PTEN, SMARCB1, TP53, VHL
Next Generation Sequencing analysis panel that analyzed gene associated with endocrine cancer diagnosis.
GNAS, MLH1, PIK3CA, PTEN, RET, VHL
Next Generation Sequencing panel that analyzed gene associated with lung cancer diagnosis.
AKT1, ALK, EGFR, ERBB2, ERBB4, FBXW7, KDR, KIT, KRAS, MET, MPL, PIK3CA, RET
Next Generation Sequencing panel that analyzed gene associated with hematology cancer diagnosis.
ABL1, FGFR3, FLT3, HRAS, IDH1, JAK2, KRAS, MLH1, MPL, NOTCH1, NPM1, PDGFRA, PTPN11, RET, TP53
Next Generation Sequencing panel that analyzed gene associated with head and neck cancer diagnosis.
CDKN2A, FBXW7, HRAS, MET, NOTCH1
Next Generation Sequencing panel that analyzed gene associated with renal cancer diagnosis.
GNAS, HRAS, MET, CMARCB1, VHL
Complete Next Generation Sequencing panel of genes associated with cancer risks.
ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, GAK2, GAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SNAD4, SMARCB1, SNO, SRC, STK11, TP53, VHL
Next generation sequencing panel that analyzes genes of your choice associated with breast, colon, ovarian, pancreatic, kidney, uterine, and many other cancers.