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Maturity Onset Diabetes of Young (MODY) and Permanent Neonatal Diabetes Mellitus (PNDM) via the NEUROD1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
NEUROD1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9011NEUROD181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Maturity onset diabetes of the young (MODY), a primary pancreatic beta-cell defect, is the most common type of monogenic diabetes, accounting for up to 5% of young adults diagnosed with diabetes (Owen 2013; McDonald et al. 2013). MODY typically presents in lean young adults before 25 years with an autosomal dominant family history. MODY patients have continued production of endogenous insulin, absence of beta-cell autoimmunity and absence of signs of insulin resistance. As this non-insulin dependent type of diabetes is frequently misdiagnosed as Type 1 or Type 2 diabetes, a timely and accurate molecular diagnosis of MODY is essential to treatment decisions, prognosis, family screening and obstetric management of gestational diabetes (Ellard et al. 2008). MODY has been conventionally classified into 11 types in terms of causative genes (Molven et al. 2011). Heterozygous NEUROD1 pathogenic variants are a rare cause of MODY.

Within the spectrum of neonatal diabetes mellitus, permanent neonatal diabetes mellitus (PNDM) represents the severe end of hyperglycemia. In addition to neonatal diabetes, PNDM patients have neurological complications including developmental delay, epilepsy, cerebellar hypoplasia, learning difficulties, sensorineural deafness, and visual impairment (Molven et al. 2011). Homozygous loss of function NEUROD1 variants are a rare cause of PNDM (Rubio-Cabezas et al. 2010).


The NEUROD1 gene (1 coding exon) encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors, which plays a role in neuronal differentiation and pancreatic morphological development.

MODY is inherited in an autosomal dominant manner. Proteins encoded by MODY-associated genes include nuclear transcription factors controlling pancreatic development (HNF1A, HNF4A, HNF1B, PDX1, KLF11, PAX4 and NEUROD1), the glucokinase (a glucose sensor in pancreatic beta-cells) (GCK), insulin (INS), kinase stimulating insulin synthesis and secretion (BLK), the enzyme carboxyl ester lipase (CEL), and the ATP-sensitive potassium (KATP) channels (ABCC8 and KCNJ11) (Ellard et al. 2008; McDonald et al. 2013). NEUROD1 pathogenic variants cause MODY6 (Malecki et al. 1999; Kristinsson et al. 2001). Heterozygous NEUROD1 variants found in MODY so far only include missense changes and small deletion/insertions (Human Gene Mutation Database).

NEUROD1-PNDM is inherited recessively, and only limited cases have been reported (Rubio-Cabezas et al. 2010). Genetic defects of NEUROD1 found in PNDM so far only include small deletions/insertions (Human Gene Mutation Database). The major causative genes for PNDM are ABCC8, KCNJ11 and INS (Molven et al. 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

NEUROD1 defects are a rare cause for both MODY and PNDM (Molven et al. 2011). The NEUROD1 mutation detection rates in a large cohort of patients are unknown because these mutations have only been reported in a limited number of patients.

Testing Strategy

This test provides full coverage of all coding exons of the NEUROD1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with MODY or PNDM.


Official Gene Symbol OMIM ID
NEUROD1 601724
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Retinitis Pigmentosa Panel


  • Ellard S. et al. 2008. Diabetologia. 51: 546-53. PubMed ID: 18297260
  • Human Gene Mutation Database (Bio-base).
  • Jo W. et al. 2011. The Tohoku Journal of Experimental Medicine. 223: 113-8. PubMed ID: 21263211
  • Kristinsson SY. et al. 2001. Diabetologia. 44: 2098-103. PubMed ID: 11719843
  • Malecki MT. et al. 1999. Nature Genetics. 23: 323-8. PubMed ID: 10545951
  • McDonald T.J., Ellard S. 2013. Annals of Clinical Biochemistry. 50: 403-15. PubMed ID: 23878349
  • Molven A., Njølstad PR. 2011. Expert Review of Molecular Diagnostics. 11: 313-20. PubMed ID: 21463240
  • Owen KR. 2013. Clinical Medicine (London, England). 13: 278-81. PubMed ID: 23760703
  • Rubio-Cabezas O. et al. 2010. Diabetes. 59: 2326-31. PubMed ID: 20573748


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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