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Monogenic Diabetes Genetic Testing
Also known as : [MODY]


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics


To contact the Molecular Genetics team:

Auckland City Hospital (09) 307 4949
Lablink ext 22000
Molecular Genetics Office ext 22014


Specimen Collection

EDTA

4 mL Adult EDTA Blood

EDTA

0.5 mL Paediatric EDTA Blood
Turnaround Time: 12 weeks
Assay Method

TEST METHOD: Capture-based target enrichment is performed using the Twist Bioscience Enzymatic Fragmentation Library Preparation v1.0 and custom panel. Next-generation sequencing (NGS) is performed on an Illumina MiSeq platform. Variant calls are identified using the Illumina DRAGEN analysis platform v4.0.3. Variant triage and curation is performed using Agilent Alissa Interpret. The Multiplex Ligation-dependent Probe Amplification (MLPA) kit P241-E1 MODY Mix1 from MRC-Holland was used to detect copy number variations in HNF4A, GCK, HNF1A, and HNF1B.

TARGET GENES AND COVERAGE: The coding regions and flanking +/-20bp (encompassing the splice sites) of the following listed genes are sequenced in this test. 100% coverage of bases within these regions is achieved by NGS (to a depth of ?50x).

Gene

Reference Sequences

ABCC8*

NM_000352.6, NP_000343.2

AKT2

NM_001626.6, NP_001617.1

APPL1

NM_012096.3, NP_036228.1

CEL

NM_001807.6, NP_001798.3

CIDEC

NM_001321142.2, NP_001308071.1

CISD2

NM_001008388.5, NP_001008389.1

DCAF17

NM_025000.4, NP_079276.2

DNAJC3

NM_006260.5, NP_006251.1

DUT

NM_001025248.2, NP_001020419.1

DYRK1B

NM_004714.3, NP_004705.1

GATA4*

NM_001308093.3, NP_001295022.1

GATA6

NM_005257.6, NP_005248.2

GCK*

NM_000162.5, NP_000153.1

GLUD1

NM_005271.5, NP_005262.1

HNF1A*

NM_000545.8, NP_000536.6

HNF1B

NM_000458.4, NP_000449.1

HNF4A*

NM_175914.5, NP_787110.2

INS*

NM_000207.3, NP_000198.1

INSR

NM_000208.4, NP_000199.2

KCNJ11*

NM_000525.4, NP_000516.3

LIPE

NM_005357.4, NP_005348.2

LMNA*

NM_170707.4, NP_733821.1

MAFA

NM_201589.4, NP_963883.2

MANF

NM_006010.6, NP_006001.5

NEUROD1*

NM_002500.5, NP_002491.3

PAX6*

NM_001368894.2, NP_001355823.1

PCBD1

NM_000281.4, NP_000272.1

PDX1

NM_000209.4, NP_000200.1

PIK3R1

NM_181523.3, NP_852664.1

PLIN1

NM_002666.5, NP_002657.3

POLD1

NM_002691.4, NP_002682.2

PPARG

NM_138711.6, NP_619725.3

PPP1R15B

NM_032833.5, NP_116222.4

RFX6

NM_173560.4, NP_775831.2

SLC29A3

NM_018344.6, NP_060814.4

TRMT10A

NM_001134665.3, NP_001128137.1

WFS1

NM_006005.3, NP_005996.2

ZBTB20

NM_001348800.3, NP_001335729.1

ZFP57

NM_001109809.5, NP_001103279.2

ZMPSTE24

NM_005857.5, NP_005848.2

Mitochondrial variants

m.12258C>A, m.12271T>C, m.14684C>T, m.14709T>C, m.3243A>G, m.8344A>G

* Genes marked with an asterisk have additional non-coding regions analysed


Diagnostic Use and Interpretation

For the diagnosis of monogenic diabetes
Important Note:
All genetic test requests for MODY require a referral from an endocrinologist. All MODY referrals also require completed Monogenic Diabetes Referral form.

Failure to provide the forms required above may delay testing.
Predictive testing only through Endocrinology or Genetic Services.

Contacts:
Endocrinology can be contacted on (09) 307 4949 ext. 26850.
Genetic Health Service NZ can be contacted on 0800 476 123.

Download: MODY referral information and form - Monogenic Diabetes Molecular Genetics Test Form.pdf


Specimen Transport Instructions for Referring Laboratories

Transport all bloods between 8 and 24 degrees Celsius within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at the temperatures stated above the following day.
For testing of other sample types please contact the laboratory prior to sending.



Last updated at 15:45:21 07/03/2024