Newborn Genetic Analysis

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Newborn Genetic Analysis

Proven Impact: An NGA Case Study

WHAT IS NGA?

Newborn Genetic Analysis (NGA) is a highly sophisticated and sensitive genetic test that identifies DNA changes that can cause infants to develop severe or life-altering conditions. Since many of these disorders are not apparent at birth, this test can help screen for these conditions, where early detection, intervention, and management are essential for the infant’s overall health and quality of life.

Early diagnosis and intervention are key in preventing or reducing severe complications

Genetic

analysis of

258 genes

Screens

over 200

conditions

Coverage

~99%

at 20x*

FULGENT CASE STUDY: GOING BEYOND STANDARD

The Result

One Pathogenic (P) and one Likely Pathogenic (LP) variant in MEFV gene
Diagnostic for Familial Mediterranean Fever (FMF)

The Significance

FMF is treatable. An inexpensive drug for gout (colchicine) is effective in preventing symptoms.
Without diagnosis, episodes of pain and fever would be otherwise untreated and unexplained.
FMF is not screened by any standard newborn testing program. DNA testing is the only method.
FMF is often not diagnosed until late in life. Most physicians are not aware of it.

Fulgent’s Newborn Genetic

Analysis goes beyond standard newborn screening. Without NGA,
babies like the one in this case may suffer for many
years without treatment or diagnosis. With NGA,
this suffering can be avoided at minimal cost and with minimal side effects.
That why Fulgent stands behind our NGA test.

Represents typical panel coverage of full-gene sequencing and deletion/duplication analysis. Technical limitations apply

BENEFITS OF NEWBORN GENETIC ANALYSIS

Tests for over 200 conditions
Has higher specificity and lower false positive rates than standard newborn screening
Reduces burden of ambiguous results or complex follow-up testing
Reduces “diagnostic odyssey” for affected infants
Results can be used to identify potential treatment/management plans

NEWBORN GENETIC ANALYSIS COVERS CONDITIONS BEYOND STANDARD NEWBORN SCREENING

Conditions	Example of Conditions	Treatment Options	# of Genes
Disorders in metabolic pathways	Propionic acidemia, Carnitine palmitoyltransferase II (CPT II) deficiency, PKU, Congenital hypothyroidism	Dietary modifications, hormone replacement therapy, surgery	148
Blood-related disorders	Thrombocytopenia, Spherocytosis, Hereditary hemorrhagic telangiectasia	Surveillance, transfusions	12
Hearing Loss	Connexin-related hearing loss, Pendred syndrome	Hearing aids and devices	18
Congenital heart defects	Heart defects/malformations, Marfan syndrome	Surgery, increased surveillance	8
Agammaglobulinemia, Chronic granulomatous disease, Omenn syndrome	Prophylactic administration of antibiotics, bone marrow transplantation	22
Pediatric cancers	Hemangioblastomas, Neurofibromatosis, Retinoblastoma, Xeroderma pigmentosum	Increased surveillance and screening	13
Epilepsy	Seizures, Encephalopathy	Routine monitoring, anti-epileptic medication	10
Vision loss	Oculocutaneous albinism, Optic atrophy	Dietary management, vision aids, reduced sun exposure	4
Other disorders	Cystic Fibrosis, Polycystic kidney disease, Spinal muscular atrophy	Surveillance, medication, transplantation	22