UK Testing Guide — Pharmacogenomics and Endocrine Panel
Two major gaps in Anthony's investigation: (1) pharmacogenomics to optimise medication and supplements, and (2) endocrine screening to rule out hormonal contributors to fatigue. This guide compares UK-available tests by value, coverage, and relevance.
Panel 1: Pharmacogenomics
Why Test
| Question | Gene(s) | Impact if Variant Found |
|---|---|---|
| Is your folate form correct? | MTHFR C677T, A1298C | Switch folic acid → methylfolate |
| How do you metabolise Elvanse? | CYP2D6, CYP2B6 | Dose adjustment; explains unusual response |
| Stress sensitivity + dopamine clearance? | COMT Val158Met | Guides stimulant response expectations |
| Supplement/medication interactions? | CYP1A2, CYP2C19, CYP3A4 | Caffeine metabolism, future medication choices |
Best-Value Options (March 2026)
Option A: myDNA via Healthily — £170
- What: Pharmacogenomics panel focused on mental health medications
- Covers: CYP450 enzymes (CYP2D6, CYP2C19, CYP2B6, CYP1A2, CYP3A4)
- Medications covered: Includes lisdexamfetamine and dexamphetamine specifically, plus antidepressants and antipsychotics
- Method: Home cheek swab, post back in prepaid envelope
- Turnaround: 21–24 business days
- Limitations: Focused on drug metabolism enzymes. Does NOT include MTHFR or COMT
- Best for: Answering "am I metabolising Elvanse correctly?" and future medication planning
- Source: Healthily
Option B: FGIH Pharmacogenomics — £299
- What: Comprehensive 36-gene drug metabolism panel
- Covers: 36 genes responsible for drug metabolism across multiple clinical categories
- Method: Home mouth swab, free tracked postage both ways
- Turnaround: 10–15 working days
- Limitations: Clinical focus on drug metabolism. MTHFR/COMT coverage unclear — confirm before ordering
- Best for: Broadest medication coverage if planning any future prescriptions
- Source: FGIH
Option C: Body Fabulous Methylation Test — £289–£520
- What: 78-gene methylation panel including MTHFR and COMT
- Covers: MTHFR, COMT, MTRR, MTR, AHCY, CBS, and 70+ other methylation-related genes
- Method: Home test kit (likely cheek swab)
- Turnaround: Not specified
- Packages:
- Lab results only: £289
- Lab results + written report: £395–£430
- Lab results + video consultation + written report: £475–£520
- Limitations: Methylation-focused, does NOT cover CYP450 drug metabolism enzymes
- Best for: Answering "is my folate form wrong?" and "what's my COMT status?"
- Source: Body Fabulous
Recommended Strategy
Best value combo: Option A + Option C (lab results only) = £170 + £289 = £459
This covers both axes:
- myDNA (£170) → CYP450 drug metabolism → Elvanse optimisation + future medication guidance
- Body Fabulous (£289) → MTHFR + COMT → folate form + stress/dopamine genotype
Budget option: Option A alone (£170) — gets the Elvanse-specific pharmacogenomics. Then request MTHFR from GP (NHS will sometimes test if you have a clinical reason — folate supplementation + neurodevelopmental conditions is reasonable).
Alternative: Existing 23andMe/AncestryDNA data — If Anthony has ever done a consumer DNA test, raw data can be uploaded to services like Gene2Rx for pharmacogenomic interpretation, or Genetic Genie for MTHFR/COMT methylation analysis at minimal cost (often free or <£20).
Panel 2: Endocrine / Hormonal Screen
Why Test
Iron overload deposits in endocrine organs. At ferritin 380 (previously 700) and TSAT 60%, these axes are at risk:
| Axis | Iron Risk | Symptom Overlap with AuDHD |
|---|---|---|
| Testosterone | Iron deposits in pituitary + testes → hypogonadism | Fatigue, low motivation, brain fog, mood |
| Thyroid | Iron impairs T4→T3 conversion | Fatigue, cognitive sluggishness, cold intolerance |
| Insulin/glucose | Iron damages pancreatic beta cells | Energy crashes, metabolic risk |
| Vitamin D | Already flagged as untested; modulates hepcidin | Fatigue, TTM (OR 4.2), mood, bone health |
| Cortisol | HPA axis dysregulation from chronic stress/burnout | Fatigue, sleep disruption, inflammation |
Best-Value Options (March 2026)
Option A: Medichecks Advanced Thyroid Function — £89
- 10 biomarkers: TSH, Free T3, Free T4, thyroglobulin antibodies, TPO antibodies, hs-CRP, ferritin, active B12, folate, vitamin D
- Method: Finger-prick at home (free) or venous at clinic (+£35)
- Turnaround: ~2 working days
- Why this is excellent value: Gets thyroid, inflammation marker (hs-CRP), vitamin D, B12, and folate all in one test for £89. Covers the thyroid axis AND the untested vitamin D.
- Source: Medichecks
Option B: Medichecks Male Hormone Check — £79
- 10 biomarkers: Total testosterone, free testosterone (calculated), SHBG, FSH, LH, oestradiol, free androgen index, prolactin, DHEA-S, albumin
- Method: Finger-prick at home (free) or venous at clinic (+£35). Venous recommended for testosterone accuracy.
- Turnaround: ~2 working days
- Why this matters: Hypogonadism is a classic HH complication. If testosterone is low, it's a treatable cause of fatigue independent of everything else.
- Source: Medichecks
Option C: Medichecks Diabetes (HbA1c) — £46
- 1 biomarker: HbA1c (glycated haemoglobin — 3-month average blood sugar)
- Method: Finger-prick at home
- Why include: HFE compound hets have elevated diabetes risk. HbA1c is the single best screening test.
- Source: Medichecks
Recommended Strategy
Best value combo: Options A + B + C = £89 + £79 + £46 = £214
Do them on the same venous draw at a Medichecks partner clinic (+£35 once) = £249 total for:
- Full thyroid panel with antibodies
- Vitamin D (untested, high priority)
- hs-CRP (inflammation marker — feeds into IDO/kynurenine hypothesis)
- B12 + folate (baseline before changing folate form)
- Full male hormone panel with testosterone
- HbA1c (diabetes screening)
- Ferritin (track iron progress)
That's 21 biomarkers for £249 covering all endocrine gaps.
Budget option: Option A alone (£89) — thyroid + vitamin D + inflammation. Most bang for buck if choosing one.
NHS route: Ask GP to add testosterone, thyroid, HbA1c, and vitamin D to the next iron monitoring bloods. Frame it as: "Iron overload can affect the pituitary and thyroid — can we check these alongside my next ferritin/TSAT?" Most GPs will agree given your HFE diagnosis.
Combined Testing Plan — Summary
| Test | Provider | Price | What It Answers |
|---|---|---|---|
| myDNA Pharmacogenomics | Healthily | £170 | Elvanse metabolism, future medication guidance |
| Methylation panel | Body Fabulous | £289 | MTHFR, COMT, folate form |
| Endocrine panel (thyroid+hormones+HbA1c) | Medichecks x3 | £249 | Testosterone, thyroid, vitamin D, HbA1c, CRP |
| Total | £708 | Covers all major gaps |
Updated after December 2025 results (thyroid, HbA1c, B12 all normal):
Prioritised if budget is limited:
- MTHFR/methylation test — now HIGHEST priority. Dec 2025 shows folate 6.8 nmol/L (LOW) despite folic acid supplementation. Body Fabulous (£289) or cheaper MTHFR-only test
- Medichecks Male Hormone Check (£79) + Vitamin D (~£39) = £118 + £35 venous = £153 — testosterone is the only untested endocrine axis; vitamin D still untested
- myDNA pharmacogenomics (£170) — directly relevant to current medication
Medichecks thyroid/HbA1c— no longer needed, Dec 2025 results normal
What to Do With Results
| Finding | Action |
|---|---|
| Low testosterone | Discuss with GP — may improve dramatically with phlebotomy; if not, testosterone replacement |
| Abnormal thyroid (low T3, high TSH) | GP referral for thyroid management; iron reduction may help |
| HbA1c ≥42 mmol/mol (pre-diabetic) | Dietary intervention + phlebotomy (iron reduction improves insulin sensitivity) |
| Vitamin D deficient (<50 nmol/L) | Start D3 2000–4000 IU/day + K2; retest at 3 months |
| Elevated hs-CRP | Confirms systemic inflammation → supports IDO/kynurenine hypothesis → prioritise anti-inflammatory interventions |
| MTHFR C677T homozygous | Switch to methylfolate immediately |
| COMT Val/Val (fast COMT) | Lower dopamine baseline → may benefit from higher-dose stimulant; less stress-resilient |
| CYP2D6 poor/rapid metaboliser | Elvanse dose may need adjustment; affects future medication choices |