NY State-Approved Tests

EGL Genetics received a NY State Permit. The tests listed below do not require a Restricted Permit for Non-Permitted Testing. Please note that any tests not listed below now require a Restricted Permit for Non-Permitted Testing before testing can proceed. NY State Restricted Permit for Non-Permitted Testing Instructions can be downloaded here. If you have any questions, please contact the lab at 470-378-2200.

All testing originating from NY State requires a consent form(s). For NY State-approved tests, consent forms are available via the table below. For consent forms for all other testing, please click here.

Test Code Test Name Consent Form(s) Required
MM470 Pan-Ethnic Carrier Screen: Gene Sequencing Panel Informed Consent for NY Clients – Fragile-X Syndrome
Informed Consent for NY Clients – Pan-Ethnic/Ashkenazi Jewish Carrier Screen
MM480 Pan-Ethnic Carrier Screen: Targeted Mutation Panel Informed Consent for NY Clients – Fragile-X Syndrome
Informed Consent for NY Clients – Pan-Ethnic/Ashkenazi Jewish Carrier Screen
MM490 Spinal Muscular Atrophy: Carrier Screen Informed Consent for NY Clients – Pan-Ethnic/Ashkenazi Jewish Carrier Screen
MM500 Ashkenazi Jewish Carrier Screen: Full Gene Sequencing, Including Fragile X Repeat Analysis, and SMA Analysis - Females Only Informed Consent for NY Clients – Fragile-X Syndrome
Informed Consent for NY Clients – Pan-Ethnic/Ashkenazi Jewish Carrier Screen
MM510 Ashkenazi Jewish Carrier Screen: Mutation Analysis, Including Fragile X Repeat Analysis, and SMA Analysis - Females Only Informed Consent for NY Clients – Fragile-X Syndrome
Informed Consent for NY Clients – Pan-Ethnic/Ashkenazi Jewish Carrier Screen
MM570 ACOG/ACMG Carrier Screen: Gene Sequencing Panel Informed Consent for NY Clients – Pan-Ethnic/Ashkenazi Jewish Carrier Screen
MM580 ACOG/ACMG Carrier Screen: Targeted Mutation Panel Informed Consent for NY Clients – Pan-Ethnic/Ashkenazi Jewish Carrier Screen
MFRAX Fragile X: CGG Repeat Analysis Informed Consent for NY Clients – Fragile-X Syndrome
FJ Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): CGG Repeat Analysis Informed Consent for NY Clients – Fragile-X Syndrome
YD Y-Chromosome: Microdeletion Analysis Informed Consent for NY Clients – Chromosome Y Microdeletion
CB Chromosome Analysis: Peripheral Blood (Age: Less than 6mo) Informed Consent for NY Clients – Chromosome Analysis
CA Chromosome Analysis: Peripheral Blood (Age: 6 months and above) Informed Consent for NY Clients – Chromosome Analysis
CV Chromosome Analysis: Chorionic Villi Informed Consent for NY Clients – Prenatal Cytogenetic Testing
AD Chromosome Analysis: Amniotic Fluid Informed Consent for NY Clients – Prenatal Cytogenetic Testing
CO Chromosome Analysis: Products of Conception (POC) Informed Consent for NY Clients – Products of Conception (POC) Chromosome Analysis
VA Chromosomal Microarray: EmArray Cyto Informed Consent for NY Clients – Postnatal Microarray
CMSNP Chromosomal Microarray: CytoScan SNP Array Informed Consent for NY Clients – Postnatal Microarray
CMPOC Chromosomal Microarray: CytoScan SNP Array POC Informed Consent for NY Clients – Products of Conception Microarray Analysis
CMPRS Chromosomal Microarray: CytoScan SNP Array Prenatal Informed Consent for NY Clients – Prenatal Microarray
CMPRE Chromosomal Microarray: EmArray Cyto Prenatal Informed Consent for NY Clients – Prenatal Microarray
EG Duchenne/Becker Muscular Dystrophy: DMD Gene Deletion/Duplication Informed Consent for NY Clients – DMD Gene Deletion/Duplication
MM212 Limb-Girdle Muscular Dystrophy: Sequencing Panel Informed Consent for NY Clients – LGMD PANEL
DG Fabry Disease: GLA Gene Sequencing NY Informed Consent - Fabry Disease Sequencing
EE Duchenne/Becker Muscular Dystrophy: DMD Gene Sequencing Informed Consent for NY Clients – DMD
MM340 Neonatal and Adult Cholestasis: Sequencing Panel Informed Consent for NY Clients – Cholestasis Panel
CF Cystic Fibrosis: CFTR Common Mutation Panel Informed Consent for NY Clients – Cystic Fibrosis Analysis
MSAJ3 Ashkenazi Jewish: BRCA Targeted Mutation Panel (BRCA1 and BRCA2 Sanger sequencing) Informed Consent for NY Clients - BRCA Testing
KM Known Mutation Testing (BRCA1 and BRCA2 Sanger sequencing) Informed Consent for NY Clients - BRCA Testing
MM071 Hereditary Breast and Ovarian Cancer Syndrome: BRCA1/BRCA2 Gene SeqPanel (NGS) Informed Consent for NY Clients - BRCA Testing
MM072 Hereditary Breast and Ovarian Cancer Syndrome: BRCA1/BRCA2 Deletion/Duplication Panel Informed Consent for NY Clients - BRCA Testing
MM070 Hereditary Breast and Ovarian Cancer Syndrome: BRCA1/BRCA2 Gene NGS Seq & Del/Dup Panel Informed Consent for NY Clients - BRCA Testing
MM200 Hereditary Cancer Gene Sequencing Panel Informed Consent for NY Clients - Hereditary Cancer Syndrome
JL Cystic Fibrosis: CFTR Gene Deletion/Duplication Informed Consent for NY Clients - Cystic Fibrosis Analysis
EXOME Exome, Medical: Clnical Exome Sequencing, Proband Only Informed Consent for NY Clients - NY Exome Consent Form
EXMXX Exome Expedited, Medical: Clnical Exome Sequencing, Proband Only Informed Consent for NY Clients - NY Exome Consent Form
EXOMT Exome, Medical: Clinical Exome Sequencing, Family Trios Informed Consent for NY Clients - NY Exome Consent Form
EXOMA Exome, Medical: Clinical Exome Sequencing, Additional Family Member Informed Consent for NY Clients - NY Exome Consent Form
EXMX3 Exome Expedited, Medical: Clinical Exome Sequencing, Family Trios Informed Consent for NY Clients - NY Exome Consent Form
AK Gaucher Disease: GBA Gene Sequencing Informed Consent for NY Clients – Gaucher Disease Testing
KT Rett Syndrome: MECP2 Gene Deletion/Duplication Informed Consent - General Molecular Genetic Testing, stating the name of the test/disease

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