CARRIER SCREENING

GeniqueScreen CARRIER SCREENING

GENIQUE LIFESCIENCES offers GeniqueScreen®, the most complete genetic test with ≥99 coverage of 1300+ genes, providing couples and physicians with the highest confidence in the test results.

1700 +

Diseases

1300 +

Genes

10,000 +

Variants

GeniqueScreen® Sole

Complete Panel Evaluation for Mother/Father

GeniqueScreen® Couple

Complete Panel evaluation for both Mother and Father

GeniqueScreen covers over 1700+ recessive disorders. These disorders include those not commonly offered by other tests, such as Cystic fibrosis, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy and Thalassemia, among others.

  • Cystic Fibrosis
  • Haemophilia

  • Beta Thalassemia

  • Duchenne Muscular Dystrophy

  • Spinal Muscular Atrophy

  • Wilson’s Disease

  • Gaucher’s Disease

  • Polycystic Ovarian Syndrome

  • Polycystic Kidney Disease

  • Retinitis pigmentosa

  • Hyperlipoproteinemia

  • Tuberous sclerosis syndrome

  • X-Linked Mental Retardation

  • G6PD Deficiency

  • Hunter Syndrome

  • Amino Acid Disorders

What does it mean to be a carrier?

A carrier is a person who inherits a recessive trait or undergoes a mutation for such a trait and yet does not display the characteristics or symptoms of the trait/disease. That person may pass their copy of the gene (allele) to their offspring. A child may express it if he/she receives the other allele from the other parent. The probability of two carriers having a child with a recessive disease is one-in-four, i.e.  25%.


What is carrier screening?

Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. The goal of carrier screening is to help individuals understand their risks of having a child with a genetic disorder and review the range of options available to guide pregnancy and family planning.

 

 

 

Scientific insights
 

An individual is a carrier of ~2.8 pathogenic variants on average 1
 

Approximately 1 in 4 (24%) individuals were carriers for at least 1 disorder and 1 in 20 (5.2%) were carriers for multiple disorders (of ~24000 individuals screened for 108 disorders) 2
 

1 in 20 (5%) individuals (of 12,000 individuals screened for 3 disorders) were carriers, 88% had no previous family history and 1 in 240 were carrier couples with increased risk of having a child with a disorder 3


Recent Committee Opinions from the American College of Obstetricians and Gynecology recommend carrier screening to be offered to all pregnant women or couples considering pregnancy. They also recommend pan-ethnic and expanded carrier screening in addition to just ethnicity-based carrier screening 4



1 Bell CJ, et al. (2011) Sci Transl Med.3(65):65ra4
2 Lazarin et al. (2013) Genet Med.15(3):178-86
3 Archibald et al. (2017) Genet Med. doi:10.1038/gim.2017.134
4 Committee Opinion No. 691. American College of Obstetricians and Gynecologists. (2017) Obstet Gynecol.129:e41–55

 

Inheritable Disorders
 

Autosomal Recessive

Two copies of an abnormal gene must be present for a trait or disease to develop.

 

 

 

 

 

Autosomal Dominant

A single copy or a single allele can cause the disorder.

X-Linked Recessive

A mutation in a gene on the X chromosome causes the phenotype to be expressed.

 

 

 

 

 

 

CASE STUDY

How testing helped two families with inherited genetic conditions

‘My Parents had Tay-Sachs children

 

Lara Murray’s family know only too well about the heartbreak that can result from passing a genetic disorder onto a child.
 “My mum and dad lost two children to Tay-Sachs before they had me,” explains the Borehamwood 43-year-old.

Her parents knew nothing about Tay-Sachs or genetic testing. “They were shocked and devastated when they discovered their first child had the condition. She passed away at two years old.”

Her mother then had a son with Tay-Sachs, who died at 18 months.

“What do you do when you have been through something like that? It is horrifying and doesn’t bear thinking about. You would give up.”

With the lack of awareness around genetic illness in the 1960s, her parents had no support.

Fortunately, they were alerted by a doctor to a test they could undergo to check before birth if a subsequent child had the condition.

“They were brave enough to give it a go and luckily everything was fine and I was born.”

Mrs Murray says that, because of her parents’ experience, testing has always been at the forefront of her mind.

“I went when I was 18. When I found out I was a carrier, I was fine. It just meant I had the information I needed.”

She adds that it would never have stopped her getting together with her husband. “If he had been a carrier, too, it would have just meant that we were aware of the risks and could test for them in early pregnancy.”

She now wants their 18-year old son to get tested. “People have to have it done.”

Reference
TheJC, Rosa Doherty, September 8, 2017 18:02

I found out I was a carrier

North Londoner Mark and his wife were trying for a baby when he discovered he was a carrier of glycogen storage disease,
which causes enlarged liver and kidneys and impaired growth.

“It isn’t what you want to hear – that something could go wrong with the baby.”

He had always appreciated the importance of genetic testing but it had not previously seemed necessary.

“I knew about testing from being at university. We were told about it a lot, being from the Jewish community.

“But it costs quite a bit to get tested so it just wasn’t something I was thinking about doing then. Two-hundred quid for a student is a lot of money.”

It was after he got married — and a friend discovered he was a carrier for cystic fibrosis — that prompted a change of heart.

“I am quite pragmatic about these things. I don’t like to worry. After the results came back we had my wife tested.

“We would both need to be carriers for the condition to given to the baby and the results came back that she was not.”

“The doctors explain everything and put you completely at ease. There should be no reason for people to fear it.

“Surely it is better to know so you can avoid a horrible situation for you and your child.”

Contact Us

1403, Tower 3, The Palms, South City 1

Gurgaon, Haryana -122001

contact@genique.co

Tel: +91 965-023-2717

Helpline No. +91 730-374-0308

Monday - Friday    9AM – 5PM

Genique Life Sciences

Genique Lifesciences is a genomics based healthcare reporting company. Genique is developing a platform for
reporting genomic data as reports that impact healthcare outcomes by making DNA based reports easily understandable for Clinicians and Patients.

 

Genique has developed products in the space of carrier screening, baby screening, health, wellness, ancestory and nutrition for the consumer market in India. Genique has co-developed its reporting engine with CSIR IGIB.

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