Carrier Screening and Prenatal

Ambry's carrier screening and prenatal testing covers a comprehensive list of childhood onset diseases. The AmbrySCREEN Version2™ test is our most widely used focused genotyping test that detects 76 childhood disorders. 

The core of the AmbrySCREEN Version2™ test is Ambry's CF Screening Panel, the most sensitive Cystic Fibrosis carrier mutation panel in the marketplace. It was designed by coupling the public databases of information along with Ambry's extensive database of over 25,000 patients sequenced in the last decade. Our CF Screening Panel of over 100 CF mutations includes only well defined disease-causing mutations, unlike some competing tests.

The test was developed at Ambry using Illumina's assay design tool for the GoldenGate Genotyping platform with VeraCode technology. The test utilizes three 48-plexed and three 96-plexed oligo assay pools (OPAs) that are run on a standard microplate. The test is based on an oligo-directed detection method that results in fluorescent products which are hybridized to VeraCode beads, then scanned on an Illumina BeadXpress Reader. The fluorescent products are resolved and indicative of present genotypes.

 
Carrier Screening/Disease Gene(s) Test(s)

AmbrySCREEN Version2™ Carrier Screening

 Tests For Over 300 Mutations Mutation Analysis
Ashkenazi Jewish FlexPanel ASPA, BCKDHA, BCKDHB, BLM, CFTR, CLRN1, DLD, FANCC, GBA, G6PC, HEXA, IKBKAP, MCOLN1, NEB, PCDH15, SMPD1, TMEM216 Mutation Analysis
Angelman Syndrome/Prader-Willi Syndrome SNRPN Deletion/Duplicaiton Analysis & Methylation Analysis
Bloom Syndrome BLM Mutation Analysis
Beta Thalassemia HBB Beta Globin Gene Sequence Analysis
Canavan Disease ASPA Mutation Analysis, 
Gene Sequence Analysis & Deletion/Duplication Analysis
Chromosomes Multiple Amniocentesis & CVS Chromosome Analysis, AF-AFP Analysis, AF-AChE Analysis, Aneupolidy FISH Screen
Cystic Fibrosis CFTR CF Screening Panel (CF 102), 
CFTR Gene Sequence Analysis & Deletion/Duplication Analysis
Dihydrolipoamide Dehydrogenase Deficiency DLD DLD Mutation Analysis
Fabry Disease GLA GLA Gene Sequence Analysis
Familial Dysautonomia IKBKAP IKBKAP Mutation Analysis
Fanconi Anemia Group C FANCC FANCC Mutation Analysis
Fragile X Syndrome FMR1 PCR and Methylation Analysis
Gaucher Disease GBA Mutation Analysis,
GBA Gene Sequence Analysis
Glycogen Storage Disease Type 1A G6PC G6PC Mutation Analysis
Joubert Syndrome TMEM216 TMEM216 Mutation Analysis
Maple Syrup Urine Disease BCKDHA, BCKDHB, DLD MSUD Mutation Analysis
Maternal Cell Contamination   MCC for amniotic fluid culture + CVS
Mucolipidosis Type IV MCOLN1 MCOLN1 Mutation Analysis
Neimann-Pick Disease Types A & B SMPD1 Mutation Analysis,
SMPD1 Gene Sequence Analysis
Nemaline Myopathy NEB NEB Mutation Analysis
Noonan/Leopard Syndrome PTPNI1, SOS1, RAF1, KRAS Partial and Full Gene Sequence Analysis
Pompe Disease GAA GAA Mutation Analysis
Sickle-Beta Thalassemia HBB Beta Globin Sequence
Spinal Muscular Atrophy SMN1 SMN1 Mutation Analysis, Deletion/Duplication Analysis
Tay-Sachs Disease HEXA HEXA Mutation Analysis,
Gene Sequence Analysis
Thrombophilia Panel Factor II,
Factor V, MTHFR		 Mutation Analysis,
Factor V Leiden
Usher Syndrome Type IF USH1 USH1 Mutation Analysis
Usher Usher Syndrome III CLRN1 CLRN1 Mutation Analysis
Y Chromosome Microdeletion Chromosomal regions: AZFa, AZFb, AZFc & AZFd Y Chromosome Microdeletion

Downloads 

Carrier Screening and Prenatal Menu
Carrier Screening and Prenatal Test Requisition Form
AmbryScreen Disease List
AmbryScreen Sample Report