Genetic testing appeals reference

BRCA1/BRCA2 Testing: Family hx breast/ovarian, Ashkenazi, prior cancer. Coverage typically meets NCCN criteria; deny if no family history

Hereditary Cancer Multi-Gene Panel: Family hx + multiple primary cancers. Panel testing requires family hx documented

Lynch Syndrome (MMR genes): Tumor MSI/dMMR + Bethesda criteria. MSI/IHC done first; germline test if abnormal

Breast Cancer Multi-Gene Panel (e.g. Color, Myriad): Family hx of cancer. Same as hereditary multi-gene

Colorectal Multi-Gene Panel: Family hx CRC + MSI. Family hx pre-test counseling required

Pancreatic Multi-Gene Panel: PC family hx. Family hx documented

Hereditary Cardiomyopathy Genetic Testing: Family hx CM/SCD + clinical suspicion. Documented clinical CM + family hx

Long QT Syndrome Genetic Testing: Clinical LQT + family hx. Schwartz score ≥3.5 + EKG

Brugada Syndrome Genetic Testing: Type 1 EKG + clinical. Type 1 spontaneous EKG

Hypertrophic Cardiomyopathy Genetic Testing: Confirmed HCM + family hx. HCM diagnosis + family screening

Dystrophinopathy (DMD/BMD): Clinical features + CK elevation. Muscle biopsy or clinical + CK

SMA (SMN1/SMN2) Genetic Testing: Clinical SMA suspicion. Newborn screening + clinical

Huntington Disease Genetic Testing: Family hx + symptoms. Pre-test genetic counseling required

Hereditary Ataxia Multi-Gene Panel: Clinical ataxia + family hx. Clinical eval + family hx

Noonan Syndrome RASopathy Panel: Clinical Noonan features. Clinical features

Marfan Syndrome (FBN1): Clinical Marfan + family hx. Ghent criteria

Ehlers-Danlos Syndrome (EDS) Multi-Gene Panel: Clinical EDS subtype. Clinical evaluation

Cystic Fibrosis Genetic Testing: Newborn screen positive + clinical. Newborn screen + sweat test

Alpha-1 Antitrypsin Deficiency: Clinical AAT deficiency suspicion. Phenotyping + level

Hemochromatosis (HFE) Genetic Testing: Iron overload + family hx. Ferritin/TSAT elevated

G6PD Deficiency Genetic Testing: G6PD enzyme deficient. Enzyme assay first

Hereditary Thrombophilia Panel (Factor V Leiden, PT): Unprovoked VTE + family hx. Clinical VTE + family hx — typically not for treatment decisions

Hereditary Spherocytosis: Clinical features + DAT-negative. Clinical + smear

Warburg-Like Mitochondrial Disease Multi-Gene Panel: Clinical features + lactate elevation. Clinical + biochemical

CYP2D6 Pharmacogenomic Testing: Drug indication (codeine, opioids, tamoxifen). Specific clinical indication required

CYP2C19 Pharmacogenomic Testing: Clopidogrel use. ACS/PCI patients

VKORC1/CYP2C9 Warfarin PGx: Warfarin initiation. FDA label + clinical

Dihydropyrimidine Dehydrogenase (DPYD) Testing: 5-FU/capecitabine treatment. Oncology — toxicity prevention

TPMT/NUDT15 Testing: Thiopurine therapy. IBD/leukemia

UGT1A1 Testing: Irinotecan therapy. Oncology

HLA-B*5701 Testing: Abacavir use (HIV). Hypersensitivity prevention

HLA-B*1502 Testing: Carbamazepine (Asian descent). SJS/TEN prevention

NSCLC EGFR Testing: Advanced NSCLC. Required by NCCN for advanced NSCLC

NSCLC ALK Rearrangement: Advanced NSCLC. NCCN required

NSCLC ROS1 Rearrangement: Advanced NSCLC. NCCN required

NSCLC PD-L1 Testing: Advanced NSCLC. NCCN required

CRC KRAS/NRAS Testing: Advanced CRC. NCCN required before anti-EGFR

Breast HER2 Testing: Invasive breast cancer. NCCN required

Breast ER/PR Testing: Invasive breast cancer. NCCN required

Oncotype DX Breast Recurrence Score: Early-stage HR+ HER2- breast cancer. Per NCCN for treatment decision

MammaPrint: Early-stage breast cancer. Selected per NCCN

FoundationOne CDx (NGS panel): Advanced solid tumor. Per NCCN comprehensive profiling

Guardant360 (Liquid biopsy): Advanced solid tumor — actionable mutations. FDA-approved for select indications

Invitae Multi-Cancer Panel: Multiple family cancers. Family hx required

Whole Exome Sequencing (WES) — Undiagnosed Disease: Unexplained genetic disease after standard workup. Clinical genetics referral + Phenotyping documented

Whole Genome Sequencing (WGS) — Pediatric Undiagnosed: Pediatric undiagnosed disease. Genetic counseling + phenotyping

Trio WES: Genetic disease workup. Parent samples included

Hereditary Hearing Loss Multi-Gene Panel: Bilateral sensorineural hearing loss + family hx. Audiologic evaluation

Retinitis Pigmentosa Genetic Testing: Clinical RP + family hx. Ophthalmology evaluation

CF Carrier Screening: Pre-conception/early pregnancy. ACMG recommendation

SMA Carrier Screening: Pre-conception/early pregnancy. ACMG recommendation

Fragile X Carrier Screening: Family hx + pre-conception. Family hx + clinical

Noninvasive Prenatal Testing (NIPT/cfDNA): Pregnancy ≥10 weeks. Per ACOG

Amniocentesis Genetic Testing: Pregnancy 15-22 weeks + indication. Indication-based

Chorionic Villus Sampling Genetic Testing: Pregnancy 10-13 weeks + indication. Indication-based