Family Prep Screen

The Family Prep Screen, which was developed and validated by Counsyl, is a comprehensive carrier screening assay that assesses a person’s carrier status for more than 100 conditions.

Of all the conditions assessed:

80

impact life expectancy or quality of life.

  • Cystic fibrosis: 35 years
  • Tay-Sachs disease: 3–5 years
  • Spinal muscular distrophy: < 2 years

59

have treatment options available.

  • MCADD: normal life quality expected with treatment
  • Wilson disease: most symptoms prevented with early treatment
  • Beta thalassemia: can extend beyond 40 years with treatment

45

carry a significant risk for intellectual disability.

  • Fragile X syndrome
  • Smith-Lemli-Optiz syndrome
  • Costeff optic atrophy syndrome

1 in 500 births are affected by a disease on the Counsyl Family Prep Screen.

Impact life expectancy or quality of life

Defined as shortened life expectancy of most (at least 60%) individuals. Impact on quality of life can include chronic or lifelong management.

Treatment

Considered available if there is a standard of care accessible to most individuals with the disease. Experimental treatments not included.

Intellectual Disability

Describes conditions that have a greater than negligible risk for intellectual disability, after standard treatments are applied. Severity of intellectual disability is not considered.

See below for a comprehensive list of diseases assessed as part of the Family Prep Screen.

Most of us are carriers of a handful of genetic diseases that do not impact our everyday lives. It’s actually normal to be a carrier, even without any family history of the disease.

For the most part, being a carrier will have no impact on your own health. But couples who are both carriers of the same disease are at increased risk of having children affected with the particular condition. Finding out if you are a carrier before or early in pregnancy gives you time to make choices that feel right for you.

Asia Genomics offers two variants of the Family Prep Screen – the Family Prep Screen 1.0 and Family Prep Screen 2.0.

Family Prep Screen 1.0 Family Prep Screen 2.0
Overview The Family Prep Screen 1.0 is a carrier screening panel that detects targeted pathogenic variants across 102 clinically significant genes. The Family Prep Screen 2.0 is an expanded carrier screening panel that utilizes sequencing to maximize coverage across the same 102 clinically significant genes as Family Prep Screen 1.0.
Methodology Several methodologies are utilized to screen the targeted variants.

  • Targeted genotyping is performed to detect 398 variants across 100 genes.
  • For spinal muscular atrophy, the copy number of exon 7 of the SMN1 gene relative to other genes is determined.
  • For fragile X syndrome, PCR followed by capillary electrophoresis is used to determine the number of CGG repeats in the 5′ UTR of FMR1.
Several methodologies are utilized to screen the targeted regions.

  • High-throughput sequencing is performed on 1427 exons across 98 genes, as well as selected intergenic and intronic regions. These regions are sequenced to high coverage and the sequences are compared to standards and references of normal variation. Large deletions and duplications may not be detected. This detects, on average, 94% of known clinically significant variants.
  • Only known and likely pathogenic variants will be reported. Benign variants, variants of uncertain significance, and variants not directly associated with the intended disease phenotype are not reported.
Analytical Sensitivity > 99.99% > 99.99%
Specificity > 99.99% > 99.97%
Accuracy > 99.99% > 99.99%
Limitations This test is designed to detect known DNA mutations associated with genetic disease. It cannot detect every pathogenic variant associated with each disease, nor does it test for all known genetic diseases. Because of this, FPS 1.0 is risk-reducing, not risk-eliminating. This test is designed to detect known DNA mutations associated with genetic disease. It cannot detect every pathogenic variant associated with each disease, nor does it test for all known genetic diseases. Because of this, FPS 2.0 is risk-reducing, not risk-eliminating.

How is the test done?

The Family Prep Screen is a blood test. A physician will first discuss the test with you to make sure you understand the benefits and limitations of the carrier screening test. If you opt for screening, a simple blood test is prescribed by your physician. The result is available in approximately two to three weeks.

With our “Couple’s Reporting” feature, you and your partner can be screened at the same time and receive a combined report. This is a good option if getting all the answers quickly is your priority.

What limitations does the test have?

No genetic screen is able to identify every carrier for every disease. And while it covers many diseases and conditions, it cannot screen for all possible birth defects or genetic diseases.

Where can I get screened?

Please contact Asia Genomics to find out where the test is available in Singapore, Malaysia, Vietnam and Philippines.

List of Diseases

  • 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  • ABCC8-related Hyperinsulinism
  • Achromatopsia
  • Alkaptonuria
  • AlphaThalassemia
  • Alpha-1 Antitrypsin Deficiency
  • Alpha-Mannosidosis
  • AndermannSyndrome
  • ARSACS
  • Aspartylglycosaminuria
  • AtaxiaWith Vitamin E Deficiency
  • Ataxia-Telangiectasia
  • AutosomalRecessive Polycystic Kidney Disease
  • Bardet-Biedl Syndrome, BBS1-related
  • Bardet-Biedl Syndrome, BBS10-related
  • BiotinidaseDeficiency
  • BloomSyndrome
  • CanavanDisease
  • CarnitinePalmitoyltransferase IA Deficiency
  • CarnitinePalmitoyltransferase II Deficiency
  • Cartilage-Hair Hypoplasia
  • Choroideremia
  • CitrullinemiaType 1
  • CLN3-related Neuronal Ceroid Lipofuscinosis
  • CLN5-related Neuronal Ceroid Lipofuscinosis
  • CohenSyndrome
  • CongenitalDisorder of Glycosylation Type Ia
  • CongenitalDisorder of Glycosylation Type Ib
  • CongenitalFinnish Nephrosis
  • CosteffOptic Atrophy Syndrome
  • CysticFibrosis
  • Cystinosis
  • D-Bifunctional Protein Deficiency
  • Factor V Leiden Thrombophilia *
  • FactorXI Deficiency
  • FamilialDysautonomia
  • FamilialMediterranean Fever
  • FanconiAnemia Type C
  • FragileX Syndrome
  • Galactosemia
  • GaucherDisease
  • GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
  • Glucose-6-Phosphate Dehydrogenase Deficiency *
  • GlutaricAcidemia Type 1
  • GlycogenStorage Disease Type Ia
  • GlycogenStorage Disease Type Ib
  • GlycogenStorage Disease Type III
  • GlycogenStorage Disease Type V
  • GRACILESyndrome
  • HbBeta Chain-Related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
  • HereditaryFructose Intolerance
  • HereditaryThymine-Uraciluria
  • HerlitzJunctional Epidermolysis Bullosa, LAMA3-related
  • HerlitzJunctional Epidermolysis Bullosa, LAMB3-related
  • HerlitzJunctional Epidermolysis Bullosa, LAMC2-related
  • HexosaminidaseA Deficiency (Including Tay-Sachs Disease)
  • HFE-associated Hereditary Hemochromatosis *
  • HomocystinuriaCaused by Cystathionine Beta-Synthase Deficiency
  • HurlerSyndrome
  • Hypophosphatasia, Autosomal Recessive
  • InclusionBody Myopathy 2
  • IsovalericAcidemia
  • JoubertSyndrome 2
  • KrabbeDisease
  • Limb-Girdle Muscular Dystrophy Type 2D
  • Limb-Girdle Muscular Dystrophy Type 2E
  • LipoamideDehydrogenase Deficiency
  • LongChain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
  • MapleSyrup Urine Disease Type 1B
  • MediumChain Acyl-CoA Dehydrogenase Deficiency
  • MegalencephalicLeukoencephalopathy With Subcortical Cysts
  • MetachromaticLeukodystrophy
  • MTHFR Deficiency *
  • MucolipidosisIV
  • Muscle-Eye-Brain Disease
  • NEB-related Nemaline Myopathy
  • Niemann-Pick Disease Type C
  • Niemann-Pick Disease, SMPD1-associated
  • NijmegenBreakage Syndrome
  • NorthernEpilepsy
  • PendredSyndrome
  • PEX1-related Zellweger Syndrome Spectrum
  • PhenylalanineHydroxylase Deficiency
  • PolyglandularAutoimmune Syndrome Type 1
  • PompeDisease
  • PPT1-related Neuronal Ceroid Lipofuscinosis
  • PrimaryCarnitine Deficiency
  • PrimaryHyperoxaluria Type 1
  • PrimaryHyperoxaluria Type 2
  • PROP1-related Combined Pituitary Hormone Deficiency
  • Prothrombin Thrombophilia *
  • PseudocholinesteraseDeficiency
  • Pycnodysostosis
  • RhizomelicChondrodysplasia Punctata Type 1
  • SallaDisease
  • SegawaSyndrome
  • ShortChain Acyl-CoA Dehydrogenase Deficiency
  • Sjogren-Larsson Syndrome
  • Smith-Lemli-Opitz Syndrome
  • SpinalMuscular Atrophy
  • Steroid-Resistant Nephrotic Syndrome
  • SulfateTransporter-Related Osteochondrodysplasia
  • TPP1-related Neuronal Ceroid Lipofuscinosis
  • TyrosinemiaType I
  • UsherSyndrome Type 1F
  • UsherSyndrome Type 3
  • VeryLong Chain Acyl-CoA Dehydrogenase Deficiency
  • Walker-Warburg Syndrome
  • WilsonDisease
  • X-Linked Juvenile Retinoschisis

* Must be specifically requested to be included.

If you would like more information or advice on any of our tests and services, please contact us at +65 6336 2050 or info@asia-genomics.com.