COVID-19PCR Testing
July 20, 2022

PCR Testing

PCR testing is the gold standard for detecting COVID-19 in the community. You should get a PCR test as soon as possible if you have any COVID-19 symptoms. This applies to…
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Genetic TestingThe contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism
July 20, 2022

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

Genetic diseases have been historically segregated into rare Mendelian disorders and common complex conditions. Large-scale studies using genome sequencing are eroding this distinction and are gradually unmasking the underlying complexity…
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Genetic TestingA unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
July 20, 2022

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele

RAI1 is a dosage-sensitive gene whose decreased or increased expression by recurrent and non-recurrent 17p11.2 deletions or duplications causes Smith-Magenis (SMS) or Potocki-Lupski syndromes (PTLS), respectively. Here we report on a…
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Genetic TestingChromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions
July 20, 2022

Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions

Non-invasive prenatal testing (NIPT) to detect fetal aneuploidy by sequencing the cell-free DNA (cfDNA) in maternal plasma is being broadly adopted. To detect fetal aneuploidies from maternal plasma, where fetal…
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COVID-19PCR Testing
July 20, 2022

PCR Testing

PCR testing is the gold standard for detecting COVID-19 in the community. You should get a PCR test as soon as possible if you have any COVID-19 symptoms. This applies to…
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COVID-19COVID-19 Serology Testing
July 20, 2022

COVID-19 Serology Testing

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