Introduction

Carrier screening is genetic testing that determines whether an asymptomatic person has a genetic mutation or abnormalities associated with a particular disorder that may be passed on to children.

Our Carrier Screening Gene Tests are associated with heritable disorders including 32 core and 26 secondary conditions identified by American College of Medical Genetics (ACMG) and American Congress of Obstetricians and Gynecologists (ACOG), and recommended by US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children for screening.   These genes are clinically linked to 71 newborn metabolic conditions. Many of these conditions have successful treatment options to enable the child to develop normally if detected early. Most of the conditions are inherited in an autosomal recessive manner while some are in an X-linked recessive manner, as diagramed below.

Otogenetics Carrier Screening Gene Test Analysis Types

Full Sequencing            CNV

Otogenetics Carrier Screening Test Options

Basic with CF            Screens For 5 Conditions, 2 Conditions, or selected Conditions

  CFTR, DMD, HBA1, HBA2 , HBB, SMN1

CFTR, SMN1

Alpha-Thalessemia, Beta Hemoglobinopathies (Beta-Thalassemia and Sickle Cell), Cystic Fibrosis, Duchenne/Becker Muscular Dystrophy, Spinal Muscular Atrophy

Reporting for Variants of all genes, Dosage of SMN1, DMD Del/Dup

 

ACOG/ACMG with CF           Screens For  up to 13 Conditions

 ASPA, BLM, CFTR, DMD, FANCC, GBA, HBA1, HBA2, HBB, HEXA, IKBKAP, MCOLN1, SMPD1, SMN1

Alpha-Thalessemia, Beta Hemoglobinopathies (Beta-Thalassemia and Sickle Cell), Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Duchenne/Becker Muscular Dystrophy, Familial Dysautonomia, Fanconi Anaemia, Gaucher Disease, Mucolipidosis IV, Niemann-Pick Disease, Types A and B, Spinal Muscular Atrophy, Tay-Sachs Disease

Reporting for Variants of all genes, Dosage of SMN1, DMD Del/Dup

 

Ashkenazi Jewish Carrier Screening             Screens For 38 Conditions

ABCC8ADAMTS2ASPAATP7BBBS2BCKDHBBLMCFTRCLRN1COL4A3, CPT2DHCR7DHDDSDLDDMDFAHFANCCFKTNG6PCGALT, GBAHEXAIKBKAP, MCOLN1MPLMTTPNEBPCDH15, PEX2PHGDH, PKHD1PMM2, RTEL1SLC35A3, SMN1SMPD1SUMF1, TMEM216,

Reporting for Variants of all genes, Dosage of SMN1, DMD Del/Dup

 

Pan-Ethnic Carrier Screening             Screens For 167 Conditions

 

Otogenetics Carrier Screening Gene Selection Criteria 

 Conditions Included In Our Expanded Carrier Screening Meet The Following Criteria:

  • carrier frequency of one in 100 or greater, and/or high occurance rate
  • well-defined phenotype
  • have detrimental effect on quality of life
  • cause cognitive or physical impairment,
  • require surgical or medical intervention
  • have an onset early in life
  • diagnosed prenatally
  • potential opportunities for antenatal intervention to improve perinatal outcomes
  • changes to delivery management to optimize newborn and infant outcomes
  • parental education about special care needs after birth