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Newborn Genetic Screening
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Newborn Genetic Screening

£720

A simple oral-swab screening test of 258 genes linked to inherited conditions that can affect babies, including metabolic disorders, immune deficiencies and some causes of hearing loss, some of which can be treated or managed more effectively when they are found early. It is an additional private test: it does not replace the NHS newborn blood spot test, and it is a screening test, not a diagnosis.

Turnaround time 3-4 weeks
Laboratory analysis About our testing →

Sample method

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Useful information

The logistics, simply.

Everything you need to know about shipping, blood draw, and suitability.

Kit delivery & logistics

1. Get your kit from us. Free delivery of your test kit, dispatched by next-day delivery after your included 45-minute specialist genetic counsellor consultation and once your test choice is confirmed. Changed your mind? Return the kit unused within 30 days at no charge.

2. Posting your sample back. After sample collection, send your sample in the pre-paid bag to the nearest depot (details in your email). Turnaround is counted from when your sample reaches the laboratory.

Turnaround
3-4 weeks
Laboratory
USA

Sample / draw options

At-home cheek swab : At-home cheek swab kit; you collect the sample yourself and post it back.

Test suitability

This test is for babies under 12 months old who have no symptoms. A baby who is already unwell or has symptoms needs a diagnostic assessment rather than a screening test: email [email protected] and we will arrange the right next step.

The order must be placed by a parent or legal guardian aged 18 or over, who gives consent on the baby's behalf and completes a pre-test consultation with one of our genetic counsellors. You collect your baby's cheek swab at home.

How it works

Three steps. That's it.

Simple, clinician-supported steps to take your test with Jeen.

01

Talk to a clinician

Book your included 45-minute consultation with our specialist genetic counsellor. Confirm the test that's right for you.

02

Consent + collect

Complete your consent form online, receive your kit, and collect your baby's cheek swab at home.

03

Results + follow-up

Your results are reviewed by your genetic counsellor. We share them with you securely, and book a follow-up consultation with onward referrals if your result is high-risk.

Reproductive & Newborn options

Compare every option we offer.

Price, turnaround and coverage side by side.

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Turnaround
Coverage
Price
Sperm Analysis in London
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Karyotype Chromosome Analysis
Karyotype Chromosome Analysis
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Carrier Screening
Carrier Screening
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SMA Newborn Testing
SMA Newborn Testing
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Newborn Genetic Screening
Newborn Genetic Screening You're viewing
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3-4 weeks
258 genes
£720
Carrier Screening + Karyotype
Carrier Screening + Karyotype
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17-21 working days
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£870
CGT - Igenomix Carrier Genetic Test
CGT - Igenomix Carrier Genetic Test
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25 working days
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£990
Clinic network

200+ collection points across the UK

If you choose a clinic blood draw, you can pick a collection point near you on the map.

200+
Partners
+£40
Add-on cost
2d
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FAQ

Frequently asked questions.

What does Newborn Genetic Screening test for?
Newborn Genetic Screening analyses 258 genes linked to inherited conditions that can affect babies - including metabolic disorders, immune deficiencies and some causes of hearing loss. It does not test for every genetic condition: the conditions listed on this page are examples of what each group of genes can detect, and some well-known conditions (for example Duchenne muscular dystrophy, haemophilia A and von Willebrand disease) are not covered. Results are reviewed by your genetic counsellor before being shared with parents.

When should we test our newborn?
Any time in the first weeks of life is ideal. The test uses a simple oral swab (no blood draw, no needles), so it can be done at home as soon as you're ready. Earlier diagnosis means earlier intervention for any treatable conditions identified.

Is the test painful or invasive?
No - collection takes about 30 seconds and uses an oral (cheek) swab. There are no needles, no blood draw, and no clinic visit needed. You collect the sample at home and post it back in the included pre-paid envelope.

How long do results take?
Standard turnaround is 3-4 weeks from when the lab receives your sample. Results are reviewed by your genetic counsellor and shared with parents. If a finding warrants clinical action, we book a follow-up consultation; routine low-risk results are shared securely without one.

How much does Newborn Genetic Screening cost?
Newborn Genetic Screening costs £720. The price includes a 45-minute pre-test consultation with our specialist genetic counsellor, the oral-swab kit shipped to you, lab analysis at our partner laboratory, and a clinical-grade report. A follow-up consultation is offered if your result is high-risk.

Does this replace the NHS newborn blood spot test?
No. The NHS newborn blood spot (heel-prick) test is recommended for all babies, is usually done when a baby is 5 days old, and screens for 10 rare but serious conditions: sickle cell disease, cystic fibrosis, congenital hypothyroidism, phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1, homocystinuria and hereditary tyrosinaemia type 1. Our test is an additional private test, not a replacement. Please still take up the NHS test.

What can this test not tell us?
It is a screening test, not a diagnosis. A positive result needs confirming with a diagnostic test arranged through a specialist service, and a negative result does not rule out every genetic condition: the test looks at 258 specific genes and may not detect every type of variant. Results can include variants of uncertain significance, and false positives can happen. Your genetic counsellor will explain what your result does and does not mean.

Who can order this test?
The order must be placed by a parent or legal guardian aged 18 or over, who gives consent on the baby's behalf. The test is for babies under 12 months old who have no symptoms; a baby who is unwell or has symptoms needs a diagnostic assessment rather than a screening test, so please email [email protected] and we will arrange the right next step. You collect the cheek swab at home.
Panel composition

All 258 genes by category

Genes grouped by the clinical area they're associated with. Click any underlined symbol to read the gene's plain-English overview on Jeen Library - or browse per-gene carrier frequencies for population-stratified rates.

Gene category
Associated genes
Conditions
Metabolic Disorders 119 genes
ABCC8, ABCD1, ACADM, ACADVL, ACAT1, ADA, AGL, AGXT, AKR1D1, ALDH7A1, ALDOB, ALPL, ARG1, ARSA, ARSB, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BTD, CBS, CPS1, CPT1A, CPT2, CTNS, CYBA, CYBB, DBT, DLD, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FOLR1, G6PC, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GCDH, GLA, GLB1, GRHPR, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAX1, HLCS, HMGCL, HMGCS2, HOGA1, HPD, HPS1, HPS4, HSD3B2, HSD3B7, IDS, IDUA, IVD, LIPA, MAT1A, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MPI, MTR, MTRR, MTTP, MUT, NAGS, NPC1, OAT, OTC, PAH, PCBD1, PCCA, PCCB, PHGDH, PNPO, PTS, PYGL, QDPR, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC34A3, SLC37A4, SLC39A4, SLC45A2, SLC4A1, SLC5A5, SLC7A7, SMPD1, SPR, SURF1, TAT, TG, TH, TTPA, UGT1A1
Inherited metabolic conditions, including phenylketonuria and maple syrup urine disease, other amino acid and organic acid disorders, fatty acid oxidation disorders, urea cycle disorders, glycogen storage diseases, lysosomal storage disorders (for example Gaucher, Fabry and Pompe disease) and X-linked adrenoleukodystrophy. Porphyrias are not covered.
Blood & Coagulation Disorders 5 genes
EPB42, F9, HBB, MPL, NCF2
Sickle cell disease and beta-thalassaemia (HBB), haemophilia B (F9), hereditary spherocytosis (EPB42), congenital amegakaryocytic thrombocytopenia (MPL) and chronic granulomatous disease (NCF2). Haemophilia A, von Willebrand disease, alpha-thalassaemia and iron metabolism disorders are not covered.
Neuromuscular Disorders 2 genes
SMN1, TAZ
Spinal muscular atrophy (SMN1) and Barth syndrome (TAZ). Duchenne and Becker muscular dystrophy, limb-girdle muscular dystrophies and most other neuromuscular conditions are not covered.
Sensory Disorders (Hearing & Vision) 12 genes
CDH23, CRYL1, GJB2, GJB6, GPR143, OTOF, SLC26A4, TMPRSS3, USH1C, USH1G, USH2A, WHRN
Inherited hearing loss (including GJB2-related hearing loss, OTOF-related auditory neuropathy and Pendred syndrome), Usher syndrome and X-linked ocular albinism. Inherited eye conditions such as Leber congenital amaurosis, and colour blindness, are not covered.
Autoinflammatory Disorder (Familial Mediterranean Fever) 1 gene
MEFV
Familial Mediterranean fever (MEFV), an inherited condition that causes recurring fevers and inflammation. Autism, intellectual disability, ataxias, leukodystrophies and hereditary spastic paraplegias are not covered; a few epilepsy genes are listed under Other Genetic Conditions.
Type IV Collagen Disorders (Alport Syndrome) 3 genes
COL4A3, COL4A4, COL4A5
Alport syndrome (COL4A3, COL4A4, COL4A5), an inherited condition affecting the kidneys, hearing and eyes. Ehlers-Danlos syndromes, epidermolysis bullosa and chondrodysplasias are not covered; osteogenesis imperfecta (COL1A1, COL1A2) and Marfan syndrome (FBN1) are listed under Other Genetic Conditions.
Primary Immunodeficiencies 19 genes
BTK, CD3D, CD3E, CD40LG, CIITA, DCLRE1C, DOCK8, FOXP3, IL2RG, IL7R, JAK3, PRF1, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, ZAP70
Severe combined immunodeficiency (for example IL2RG, RAG1, RAG2, JAK3, IL7R, DCLRE1C, CD3D, CD3E, ZAP70 and PTPRC), X-linked agammaglobulinaemia (BTK), X-linked hyper-IgM syndrome (CD40LG), MHC class II deficiency (CIITA, RFX5, RFXANK, RFXAP), DOCK8 deficiency, IPEX syndrome (FOXP3) and familial haemophagocytic lymphohistiocytosis (PRF1). Chronic granulomatous disease genes are listed under Metabolic and Blood & Coagulation Disorders. Wiskott-Aldrich syndrome is not covered.
Kidney & Urinary Tract Disorders 6 genes
AQP2, AVPR2, KCNJ11, LMBRD1, PKHD1, VDR
Nephrogenic diabetes insipidus (AQP2, AVPR2), autosomal recessive polycystic kidney disease (PKHD1) and hereditary vitamin D-resistant rickets (VDR). KCNJ11 (neonatal diabetes) and LMBRD1 (a vitamin B12 processing disorder) are also listed here. Nephrotic syndrome, Dent disease, Bartter syndrome and Gitelman syndrome are not covered, and dominant polycystic kidney disease is only partly covered (PKD2 is listed under Other Genetic Conditions; PKD1 is not on the panel).
Endocrine Disorders 19 genes
CASR, CYP11B1, CYP11B2, CYP17A1, CYP27A1, CYP27B1, DUOX2, DUOXA2, IYD, LHX3, NR0B1, POU1F1, PROP1, STAR, TCIRG1, TPO, TRHR, TSHB, TSHR
Inherited thyroid conditions (TPO, TSHR, TSHB, DUOX2, DUOXA2, IYD, TRHR), some rarer forms of congenital adrenal hyperplasia and adrenal disorders (CYP11B1, CYP17A1, STAR, NR0B1), combined pituitary hormone deficiency (PROP1, POU1F1, LHX3), disorders of calcium and vitamin D metabolism (CASR, CYP27B1) and infantile osteopetrosis (TCIRG1). 21-hydroxylase deficiency (CYP21A2), the most common form of congenital adrenal hyperplasia, and growth hormone deficiency are not covered.
DNA Repair Disorders (Xeroderma Pigmentosum) 4 genes
ERCC2, ERCC5, XPA, XPC
Xeroderma pigmentosum (XPA, XPC, ERCC2, ERCC5), an inherited sensitivity to ultraviolet light that carries a high risk of skin cancer. Fanconi anaemia, Bloom syndrome and ataxia-telangiectasia are not covered. Some hereditary tumour-predisposition genes (for example RB1, VHL and MEN1) are listed under Other Genetic Conditions.
Other Genetic Conditions 68 genes
ABCG5, ACAD8, ACVRL1, ADAMTS13, ANK1, ANKH, BMPR1A, CFTR, COL1A1, COL1A2, CRLF1, ELANE, ENG, FBN1, GCH1, GLUD1, HNF4A, IGSF1, INS, JAG1, KCNE1, KCNQ2, LAMP2, LDLR, LPL, MC2R, MEN1, MYO15A, NF1, NF2, NTRK1, OPA1, PAX3, PAX8, PHEX, PKD2, PKLR, POR, PRRT2, PTCH1, PTPN11, RB1, SCN1A, SCN2A, SCN8A, SCNN1A, SCNN1B, SLC2A1, SMAD3, SMAD4, SMN2, SOX10, SPTB, STK11, TCN2, TECTA, TGFBR1, TGFBR2, THRA, TMIE, TPRN, TRIOBP, TRMU, TSC1, TSC2, VHL, WT1, ZIC3
A mixed group of other inherited conditions, including cystic fibrosis (CFTR), Marfan syndrome (FBN1), osteogenesis imperfecta (COL1A1, COL1A2), tuberous sclerosis (TSC1, TSC2), neurofibromatosis (NF1, NF2), Noonan syndrome (PTPN11), Alagille syndrome (JAG1), familial hypercholesterolaemia (LDLR), some early-onset epilepsies (SCN1A, SCN2A, SCN8A, KCNQ2), further hearing-loss genes and some hereditary tumour syndromes (RB1, VHL, MEN1, PTCH1, WT1). It is not a complete list of what these genes can cause.

References & methodology

Figures in the GUARDIAN sub-sections come from one US research study, not from this test.

The GUARDIAN study

GUARDIAN (Genomic Uniform-screening Against Rare Disease in All Newborns) offered genome-sequencing-based newborn screening to families at six hospitals in New York City. Its first published results (Ziegler et al., JAMA, 2025) cover the first 4,000 babies enrolled:

  • Sequencing was completed for 3,982 babies. 147 babies (3.7%) had a positive screen, and 120 of the 151 positive screen results were confirmed as true positives.
  • The most common positive screen was G6PD deficiency, found in 92 babies. Leaving G6PD deficiency out, the screen-positive rate was about 0.6%, compared with about 0.3% for routine newborn screening in New York State.
  • GUARDIAN screened 156 early-onset conditions with established interventions, plus 99 optional neurodevelopmental conditions.

Why those figures do not carry over to this test

  • GUARDIAN was a research study in one diverse US city. The frequency of conditions such as G6PD deficiency and haemoglobin disorders differs between populations, so the UK figures would be different.
  • This 258-gene panel is not the same panel. Some conditions in GUARDIAN are not covered here, and the conditions listed above under each gene category are examples of what the genes can detect, not a complete list.
  • The authors note that the study cannot yet identify false-negative results, so how reliable a negative result is has not been established.
  • A positive screening result is not a diagnosis. It needs confirming with a diagnostic test arranged through a specialist service.

Alongside NHS newborn screening

This test does not replace the NHS newborn blood spot (heel-prick) test, which is recommended for all babies. The NHS test screens for 10 rare but serious conditions - sickle cell disease, cystic fibrosis, congenital hypothyroidism, phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1, homocystinuria and hereditary tyrosinaemia type 1 - and is usually done when a baby is 5 days old. Please take up the NHS test as well.

Citations:

  • Ziegler A, et al. "Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions." JAMA. 2025;333(3):232-240. doi:10.1001/jama.2024.19662. Open in PubMed →
  • NHS England. "Newborn blood spot screening: programme overview." GOV.UK →
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