ppgl-genetic-test-selection

Selects specific genes to test for PPGL based on clinical presentation and phenotypic characteristics. Indications include abdominal/PGL with metastasis risk (test SDHB), head/neck PGL (test SDHD), bilateral PCC or pancreatic lesions (test VHL), and MEN2-associated mucosal neuromas or medullary thyroid cancer (test RET).

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リポジトリ: dromlakhani/MD2SKILL
ソースの最終更新活動: 2026年6月21日 14:12
検出された SKILL.md の言語: 英語
スター: 10
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npx skills add https://github.com/dromlakhani/MD2SKILL --skill ppgl-genetic-test-selection

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t1d-progression-risk-and-monitoring-frequency

For a person with confirmed islet autoantibodies (early-stage type 1 diabetes), state the numerical progression risk to Stage 3 T1D by stage and age, set the age-stratified monitoring frequency (metabolic and HbA1c), apply the ≥10% longitudinal HbA1c rise → OGTT rule, and give the standard risk-modifier and communication framing. Use when a clinician asks how often should I monitor this Stage 1 child, what's the risk of this teenager progressing to insulin, adult with GAD positive what's the 5-year risk, my patient's HbA1c has risen 12% is that important, single autoantibody how often to retest, or how to counsel a family about progression risk. Grounded in Phillip et al. Diabetologia 2024 international staging and monitoring consensus, cross-referenced with Hussain et al 2026 IDF Europe roadmap.

2026-08-26

t1d-islet-autoantibody-screening-confirmation

Order and confirm islet autoantibody screening for early-stage type 1 diabetes — which antibodies to test (GAD65, IAA, IA2, ZnT8), sample types (capillary dried blood spot, venous), the mandatory two-sample two-method confirmation protocol, and how to interpret a positive, negative, or single-antibody result. Use when a clinician asks how to screen for early T1D, which islet autoantibodies to order, how to confirm a positive T1D antibody screen, is one autoantibody enough for T1D diagnosis, GAD antibody positive what next, or is running a general population or family-history T1D screening program. Grounded in Hussain et al 2026 (Diabetes, Obesity and Metabolism, IDF Europe consensus, DOI 10.1111/dom.70569).

2026-08-25

t1d-staging-classifier

Classify a person with a positive islet autoantibody screen into a specific stage of type 1 diabetes (At Risk / Stage 1 / Stage 2a / Stage 2b / Stage 3a / Stage 3b / Stage 4) using the international consensus staging framework based on autoantibody count and glycaemic status. Use when a clinician asks how to stage a positive autoantibody screen, what stage of T1D is this, is this early-stage T1D, does this child need insulin yet, is this presymptomatic T1D, does this qualify for teplizumab, or presents a person with any combination of islet autoantibodies + glucose data. Applies across paediatric and adult populations. Grounded in Hussain et al 2026 (Diabetes, Obesity and Metabolism, IDF Europe consensus, DOI 10.1111/dom.70569).

2026-08-25

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name	ppgl-genetic-test-selection
description	Selects specific genes to test for PPGL based on clinical presentation and phenotypic characteristics. Indications include abdominal/PGL with metastasis risk (test SDHB), head/neck PGL (test SDHD), bilateral PCC or pancreatic lesions (test VHL), and MEN2-associated mucosal neuromas or medullary thyroid cancer (test RET).

PPGL Genetic Test Selection Based on Clinical Phenotype

STEP 1 — Gather Information

Collect tumor location (adrenal PCC vs abdominal/head-neck PGL), presence of metastatic disease, family history of PPGL or related syndromes, and clinical signs suggestive of MEN2 (mucosal neuromas, medullary thyroid cancer), VHL (bilateral PCC, pancreatic cysts/lesions), and SDHB/SDHD phenotypes.

STEP 2 — Rule In / Rule Out

If tumor location is head/neck paraganglioma, proceed to test SDHD; otherwise, rule out SDHD and evaluate for abdominal/PGL or adrenal PCC.

STEP 3 — Classify or Stratify

Classify phenotype: abdominal or extra-adrenal PGL with metastasis risk/family history → test SDHB; bilateral PCC or pancreatic lesions → test VHL; mucosal neuromas or medullary thyroid cancer → test RET.

STEP 4 — Decide

Order the indicated genetic test (SDHB, SDHD, VHL, or RET) based on the classification.

Clinical Guardrails / Mimics / Pitfalls

Do not test SDHB for isolated head/neck PGL without metastasis risk; do not overlook VHL in young patients with bilateral PCC; do not miss RET in patients with mucosal neuromas even without family history; ensure genetic counseling before testing; note that testing is not covered by insurance except for medullary thyroid carcinoma.

Concrete Clinical Example

A 45-year-old patient with an abdominal paraganglioma and a family history of metastatic PPGL undergoes SDHB testing, which reveals a pathogenic variant, guiding surveillance for metastasis.

Source: Japan Endocrine Society Clinical Practice Guideline for the Diagnosis and Management of Pheochromocytoma and Paraganglioma 2025, Japan Endocrine Society, 2025, DOI:10.1507/endocrj.EJ25-0165

ppgl-genetic-test-selection

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このリポジトリの他の Skills

このリポジトリの他の Skills

PPGL Genetic Test Selection Based on Clinical Phenotype

STEP 1 — Gather Information

STEP 2 — Rule In / Rule Out

STEP 3 — Classify or Stratify

STEP 4 — Decide

Clinical Guardrails / Mimics / Pitfalls

Concrete Clinical Example

PPGL Genetic Test Selection Based on Clinical Phenotype

STEP 1 — Gather Information

STEP 2 — Rule In / Rule Out

STEP 3 — Classify or Stratify

STEP 4 — Decide

Clinical Guardrails / Mimics / Pitfalls

Concrete Clinical Example